Severe Combined Immunodeficiency, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCIDX1 MCID: SVR066 MIFTS: 66	Severe Combined Immunodeficiency, X-Linked (SCIDX1) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Severe Combined Immunodeficiency, X-Linked

MalaCards integrated aliases for Severe Combined Immunodeficiency, X-Linked:

Name: Severe Combined Immunodeficiency, X-Linked ⁵⁷ ²⁰ ¹³ ⁵⁴

X-Linked Severe Combined Immunodeficiency ¹² ⁷⁴ ²⁵ ²⁰ ⁴³ ²⁹ ⁶ ¹⁵

Scidx1 ⁵⁷ ²⁵ ²⁰ ⁴³ ⁵⁸ ⁷³

Xscid ⁵⁷ ¹² ²⁰ ⁴³ ⁷³

X-Linked Scid ²⁵ ²⁰ ⁴³

X-Scid ²⁵ ²⁰ ⁴³

Scidx ⁵⁷ ²⁰ ⁷³

Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative ⁵⁷ ²⁰

X-Linked Combined Immunodeficiency Diseases ⁴⁴ ⁷¹

Gamma Chain Deficiency ¹² ¹⁷

Immunodeficiency 4 ⁵⁷ ⁷³

Scid, X-Linked ⁵⁷ ²⁰

Imd4 ⁵⁷ ⁷³

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative ⁷³

Severe Combined Immunodeficiency X-Linked T Cell-Negative/b Cell-Positive/nk Cell-Negative ⁷³

Severe Combined Immunodeficiency X-Linked T-Cell Negative/b-Cell Positive/nk-Cell Negative ⁷³

Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency ⁷¹

Severe Combined Immunodeficiency T- B+ Due to Gamma Chain Deficiency ²⁰

T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency ⁵⁸

Severe Combined Immunodeficiency T- B+, X-Linked ²⁰

T-B+ Severe Combined Immunodeficiency, X-Linked ⁵⁸

T-B+ Scid Due to Gamma Chain Deficiency ⁵⁸

Agammaglobulinemia Swiss Type ⁷³

Thymic Epithelial Hypoplasia ¹²

Immunodeficiency 4; Imd4 ⁵⁷

Il2rg Scid, T- B+ Nk- ⁴³

Scid X-Linked ⁷³

Scidx; Xscid ⁵⁷

Scid-X1 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

t-b+ severe combined immunodeficiency due to gamma chain deficiency
Inheritance: X-linked recessive; Age of onset: Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
x-linked recessive

Miscellaneous:
death within first year of life

HPO:

³¹

severe combined immunodeficiency, x-linked:
Onset and clinical course infantile onset neonatal onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Severe combined immunodeficiency [SCID] with low or normal B-cell numbers

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0060013

OMIM® ⁵⁷ 300400

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D016511 D053632

NCIt ⁵⁰ C4682

SNOMED-CT ⁶⁷ 203592006

ICD10 via Orphanet ³³ D81.2

UMLS via Orphanet ⁷² C2931540

Orphanet ⁵⁸ ORPHA276

MedGen ⁴¹ C1279481 C2931540

EFO ¹⁷ EFO_0005555

UMLS ⁷¹ C0392607 C1279481

Sources

Summaries for Severe Combined Immunodeficiency, X-Linked

GARD : ²⁰ X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.

MalaCards based summary : Severe Combined Immunodeficiency, X-Linked, also known as x-linked severe combined immunodeficiency, is related to precursor t-cell acute lymphoblastic leukemia and chickenpox. An important gene associated with Severe Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and nk cells, and related phenotypes are pneumonia and recurrent fever

Disease Ontology : ¹² A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

MedlinePlus Genetics : ⁴³ X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.

UniProtKB/Swiss-Prot : ⁷³ Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

Wikipedia : ⁷⁴ X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body... more...

More information from OMIM: 300400 PS300755

GeneReviews: NBK1410

Sources

Related Diseases for Severe Combined Immunodeficiency, X-Linked

Diseases related to Severe Combined Immunodeficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)

#	Related Disease	Score	Top Affiliating Genes
1	precursor t-cell acute lymphoblastic leukemia	30.5	LMO2 IL7 IL2RG
2	chickenpox	30.5	IL4 IL2 ADA
3	adenosine deaminase deficiency	30.5	LMO2 JAK3 IL2RG ADA
4	lymphoma, hodgkin, classic	30.2	STAT6 IL9 IL2RA IL2
5	t cell deficiency	30.2	IL7R IL7 IL2RG IL2 IL15
6	disease by infectious agent	30.2	IL7 IL4 IL2RB IL2
7	lymphopenia	30.2	JAK3 IL7R IL7 IL4 IL2RG IL2RA
8	acute graft versus host disease	30.1	IL4 IL2RB IL2RA IL2
9	omenn syndrome	30.1	JAK3 IL7R IL7 IL4 IL2RG ADA
10	leukemia, acute lymphoblastic	29.8	LMO2 KITLG JAK3 JAK1 IL7R IL7
11	t-cell acute lymphoblastic leukemia	29.8	LMO2 JAK3 JAK1 IL7R IL7 IL4
12	t-cell lymphoblastic leukemia/lymphoma	29.8	LMO2 IL9 IL2RB IL2RA IL2 ADA
13	lymphoma, non-hodgkin, familial	29.6	KITLG IL9 IL7 IL2RB IL2RA IL2
14	leukemia, acute myeloid	29.5	LMO2 KITLG JAK3 JAK1 IL7 IL4
15	common variable immunodeficiency	29.4	JAK3 IL7 IL4 IL2RB IL2RA IL21
16	immune deficiency disease	28.9	JAK3 IL7R IL7 IL4 IL2RG IL2RB
17	combined immunodeficiency	28.1	STAT6 LMO2 KITLG JAK3 JAK1 IL9
18	severe combined immunodeficiency	27.9	STAT6 LMO2 KITLG JAK3 JAK1 IL9
19	t-b- severe combined immunodeficiency	11.1
20	immunodeficiency, common variable, 4	11.1
21	graft-versus-host disease	10.5
22	agammaglobulinemia	10.4
23	1-chloro-2,4-dinitrobenzene allergic contact dermatitis	10.4	IL4 IL2
24	janus kinase-3 deficiency	10.4	JAK3 IL2RG
25	ceftazidime allergy	10.4	IL7 IL15
26	thymic dysplasia	10.4
27	b-cell growth factor	10.4	IL7 IL4
28	chromium allergic contact dermatitis	10.4	IL4 IL2
29	atopic keratoconjunctivitis	10.3	IL4 IL2
30	phagocyte bactericidal dysfunction	10.3	LMO2 IL2RG ADA
31	metal allergy	10.3	IL4 IL2
32	loiasis	10.3	IL9 IL4
33	granulomatous disease, chronic, x-linked	10.3	LMO2 IL2RG ADA
34	reticular dysgenesis	10.3	JAK3 IL2RG ADA
35	chronic asthma	10.3	IL4 IL2
36	nickel allergic contact dermatitis	10.3	IL9 IL4 IL2
37	filarial elephantiasis	10.3	IL9 IL4 IL2
38	thyroid lymphoma	10.3	IL7R IL7
39	rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	10.3	IL2RB IL2RA
40	splenic tuberculosis	10.3	IL2 ADA
41	childhood t-cell acute lymphoblastic leukemia	10.3	IL7R IL7 IL2
42	microscopic colitis	10.3	IL4 IL2 IL15
43	toxic oil syndrome	10.3	IL4 IL2RA
44	t-cell adult acute lymphocytic leukemia	10.3	JAK3 IL2RA IL2
45	coccidiosis	10.3	IL4 IL2 IL15
46	virus associated hemophagocytic syndrome	10.3	IL4 IL2RB IL2
47	conjunctivitis	10.3	IL7 IL4 IL2
48	autoimmune disease of skin and connective tissue	10.3	IL4 IL2 IL15
49	pleural tuberculosis	10.2	IL2RA IL2 ADA
50	neurodermatitis	10.2	TSLP IL4

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, X-Linked:

Sources

Symptoms & Phenotypes for Severe Combined Immunodeficiency, X-Linked

Human phenotypes related to Severe Combined Immunodeficiency, X-Linked:

⁵⁸ ³¹ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	pneumonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002090
2	recurrent fever ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001954
3	decreased lymphocyte proliferation in response to mitogen ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0031381
4	reduced natural killer cell count ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0040218
5	decreased proportion of cd4-positive helper t cells ³¹	hallmark (90%)		HP:0005407
6	decreased proportion of naive t cells ³¹	hallmark (90%)		HP:0031397
7	cough ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012735
8	skin rash ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000988
9	sepsis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100806
10	diarrhea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002014
11	decreased circulating iga level ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002720
12	decreased circulating igg level ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004315
13	recurrent opportunistic infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005390
14	abnormally low t cell receptor excision circle level ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031545
15	decreased proportion of cd3-positive t cells ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0045080
16	failure to thrive ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001508
17	recurrent bacterial skin infections ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005406
18	recurrent herpes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005353
19	absent tonsils ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030813
20	lymph node hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002732
21	recurrent haemophilus influenzae infections ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005376
22	chronic oral candidiasis ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0009098
23	severe recurrent varicella ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005428
24	hepatomegaly ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002240
25	jaundice ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000952
26	lymphoma ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002665
27	lymphoproliferative disorder ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0005523
28	increased circulating igg level ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003237
29	recurrent pneumonia ³¹	very rare (1%)		HP:0006532
30	lymphopenia ⁵⁸		Very frequent (99-80%)
31	hypoplasia of the thymus ³¹			HP:0000778
32	chronic diarrhea ³¹			HP:0002028
33	agammaglobulinemia ³¹			HP:0004432
34	severe combined immunodeficiency ³¹			HP:0004430
35	decreased circulating total igm ³¹			HP:0002850
36	chronic mucocutaneous candidiasis ⁵⁸		Occasional (29-5%)
37	abnormal immunoglobulin level ⁵⁸		Very frequent (99-80%)
38	recurrent bacterial infections ⁵⁸		Frequent (79-30%)
39	recurrent fungal infections ³¹			HP:0002841
40	decreased proportion of cd4-positive t cells ⁵⁸		Very frequent (99-80%)
41	impaired lymphocyte transformation with phytohemagglutinin ³¹			HP:0003347
42	reduced proportion of naive t cells ⁵⁸		Very frequent (99-80%)
43	recurrent cutaneous fungal infections ⁵⁸		Occasional (29-5%)
44	recurrent bacterial meningitis ³¹			HP:0007274
45	t lymphocytopenia ³¹			HP:0005403
46	reduced natural killer cell activity ³¹			HP:0012178
47	decreased circulating ige ³¹			HP:0005479

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory Lung:
pneumonia

Immunology:
thymic hypoplasia
frequent bacterial, fungal and viral infections
specific antibody production very poor
natural killer cells, reduced numbers and cytotoxicity
absent t lymphocytes
more

Skin Nails Hair Skin:
candidal diaper rash
erythematous skin rashes

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
agammaglobulinemia
low absolute lymphocyte count

Neurologic Central Nervous System:
recurrent bacterial meningitis

Head And Neck Mouth:
oral thrush

Clinical features from OMIM®:

300400 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-2	9.44	JAK1
2	Decreased viability	GR00221-A-3	9.44	JAK3
3	Decreased viability	GR00249-S	9.44	IL21 IL2RA IL4R JAK1
4	Decreased viability	GR00381-A-1	9.44	IL21
5	Decreased viability	GR00386-A-1	9.44	IL7 KITLG STAT6
6	Decreased viability	GR00402-S-2	9.44	IL2 IL2RA JAK3

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, X-Linked:

⁴⁶ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.38	ADA GHR IL15 IL2 IL21 IL2RA
2	endocrine/exocrine gland	MP:0005379	10.33	ADA GHR IL15 IL2 IL2RA IL2RB
3	immune system	MP:0005387	10.32	ADA CFP GHR IL15 IL2 IL21
4	growth/size/body region	MP:0005378	10.25	ADA GHR IL15 IL2 IL2RA IL2RB
5	cellular	MP:0005384	10.24	ADA GHR IL2 IL2RG IL4 IL4R
6	homeostasis/metabolism	MP:0005376	10.21	ADA CFP GHR IL2 IL21 IL2RA
7	digestive/alimentary	MP:0005381	10.18	ADA IL2 IL2RA IL2RG IL4 IL4R
8	integument	MP:0010771	9.91	GHR IL2RB IL4 IL4R JAK1 KITLG
9	mortality/aging	MP:0010768	9.86	ADA CFP GHR IL15 IL2 IL2RA
10	liver/biliary system	MP:0005370	9.85	ADA GHR IL2 IL2RB IL4 IL4R
11	respiratory system	MP:0005388	9.28	ADA IL2 IL2RA IL2RG IL4 IL4R

Sources

Drugs & Therapeutics for Severe Combined Immunodeficiency, X-Linked

Drugs for Severe Combined Immunodeficiency, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Adenosine

Approved, Investigational

Phase 2, Phase 3

58-61-7

60961

Synonyms:

(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-ribofuranose

1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-ribofuranose

1odi

2fqy

2gl0

30143-02-3

46946-45-6

46969-16-8

4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside

58-61-7

6-Amino-9-.beta.-ribofuranosyl-9H-purine

6-Amino-9-b-D-ribofuranosyl-9H-purine

6-Amino-9beta-delta-ribofuranosyl-9H-purine

6-Amino-9beta-D-ribofuranosyl-9H-purine

6-Amino-9-beta-D-ribofuranosyl-9H-purine

6-Amino-9-β-D-ribofuranosyl-9H-purine

9-(beta-D-Arabinofuranosyl)adenine

9-b-D-Ribofuranosidoadenine

9-b-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Arabinofuranosyladenine

9-beta-delta-Arabinofuranosyladenine

9-beta-delta-Ribofuranosidoadenine

9beta-delta-Ribofuranosyl-9H-purin-6-amine

9-beta-delta-Ribofuranosyl-9H-purin-6-amine

9beta-delta-Ribofuranosyladenine

9-beta-delta-Ribofuranosyladenine

9-beta-D-Ribofuranosidoadenine

9beta-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Ribofuranosyl-9H-purin-6-amine

9beta-D-Ribofuranosyladenine

9-beta-D-Ribofuranosyladenine

9-Β-D-ribofuranosidoadenine

9-β-D-ribofuranosyl-9H-purin-6-amine

9-Β-D-ribofuranosyl-9H-purin-6-amine

A0152

A4036_SIGMA

A9251_SIGMA

AC1L1U8O

AC1Q1ID3

AC1Q52XU

Adenin riboside

Adenine 9-beta-D-arabinofuranoside

Adenine deoxyribonucleoside

Adenine Deoxyribonucleoside

Adenine nucleoside

Adenine riboside

Adenine-9beta-delta-ribofuranoside

Adenine-9beta-D-ribofuranoside

Adenine-9-beta-D-ribofuranoside

adenine-D-ribose

Adenocard

Adenocard (TN)

Adenocard, Adenosine

Adenocor

Adenogesic

Adenoscan

Adenoscan (TN)

Adenosin

Adenosin [German]

Adenosina

adenosine

Adenosine

Adénosine

Adenosine (JAN/USP)

Adenosine [USAN:BAN]

Adenosine, homopolymer

Adenosinum

Adensoine

Adenyldeoxyriboside

Ade-rib

Ade-Rib

ADN

Ado

AI3-52413

BB_NC-0565

b-D-Adenosine

beta-Adenosine

beta-D-Adenosine

beta-delta-Adenosine

beta-D-Ribofuranoside, adenine-9

Bio1_000437

Bio1_000926

Bio1_001415

bmse000061

Boniton

BSPBio_001796

C00212

Caswell No. 010B

CCRIS 2557

CHEBI:16335

CHEMBL477

CID60961

D000241

D00045

DB00640

Deoxyadenosine

Desoxyadenosine

EA6C60C2-6AFB-4264-A2F0-541373DB950E

EINECS 200-389-9

FT-0082881

HMS1920A13

HMS2091G13

KBio3_001296

LS-15085

MEDR-640

MLS000069638

MLS002153227

MolPort-001-838-229

Myocol

NCGC00023673-03

NCGC00023673-04

NCGC00023673-05

NCGC00023673-06

NCGC00023673-07

nchembio.143-comp9

nchembio.186-comp109

nchembio.2007.56-comp13

nchembio.64-comp4

nchembio706-5

NSC 627048

NSC 7652

NSC627048

NSC7652

Nucleocardyl

Pallacor

Polyadenosine

Polyriboadenosine

S1647_Selleck

Sandesin

SDCCGMLS-0003108.P003

SMR000058216

SPBio_001194

SPECTRUM1500107

Spectrum2_001257

Spectrum3_000288

SR 96225

SR-96225

SUN-Y4001

TL8003749

UNII-K72T3FS567

USAF CB-10

V0098

Vidarabine

ZINC02169830

Β-D-adenosine

Busulfan

Approved, Investigational

Phase 1, Phase 2

55-98-1

2478

Synonyms:

1, {4-Bis[methanesulfonoxy]butane}

1, 4-Dimethanesulfonoxybutane

1, 4-Dimethylsulfonoxybutane

1,4-Bis(methanesulfonoxy)butane

1,4-Bis(methanesulfonyloxy)butane

1,4-Bis(methanesulphonoxy)butane

1,4-Bis[methanesulfonoxy]butane

1,4-Butanedi yl dimethanesulfonate

1,4-Butanediol dimethanesulfonate

1,4-BUTANEDIOL DIMETHANESULFONATE

1,4-Butanediol dimethanesulfonic acid

1,4-Butanediol dimethanesulphonate

1,4-Butanediol dimethanesulphonic acid

1,4-Butanediol dimethylsulfonate

1,4-Butanediol, dimethanesulfonate

1,4-Butanediol, dimethanesulphonate

1,4-Butanediyl dimethanesulfonate

1,4-Di(methylsulfonoxy)butane

1,4-Dimesyloxybutane

1,4-Dimethane sulfonyl oxybutane

1,4-Dimethanesulfonoxybutane

1,4-Dimethanesulfonoxylbutane

1,4-Dimethanesulfonyloxybutane

1,4-Dimethanesulphonoxybutane

1,4-Dimethanesulphonyloxybutane

1,4-Dimethylsulfonoxybutane

1,4-Dimethylsulfonyloxybutane

2041 C. B

2041 C. B.

2041 C.B

2041 C.B.

4-((Methylsulfonyl)oxy)butyl methanesulfonate

4-methylsulfonyloxybutyl methanesulfonate

55-98-1

AC-198

AC1L1DRQ

AC1Q4GRQ

acid, tetramethylene ester

AI3-25012

AKOS003614975

alkylating agent: crosslinks guanine residues

Ambap55-98-1

AN 33501

B1022

B2635_FLUKA

B2635_SIGMA

Bisulfex

Bisulphex

BRN 1791786

BSPBio_001920

Busilvex

busulfan

Busulfan

BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)

Busulfan (JP15/USP/INN)

Busulfan [INN:JAN]

Busulfan glaxosmithkline brand

Busulfan GlaxoSmithKline Brand

Busulfan orphan brand

Busulfan Orphan Brand

Busulfan wellcome

Busulfan Wellcome

Busulfan wellcome brand

Busulfan Wellcome Brand

Busulfano

Busulfano [INN-Spanish]

Busulfanum

Busulfanum [INN-Latin]

Busulfex

Busulphan

Busulphane

Busulphano

Busulphanum

butane-1,4-diyl dimethanesulfonate

Butanedioldimethanesulfonate

Buzulfan

C.B. 2041

C6H14O6S2

CB 2041

CCRIS 418

CHEBI:28901

CHEMBL820

CID2478

Citosulfan

CPD000058613

D002066

D00248

DB01008

DivK1c_000847

EINECS 200-250-2

FT-0083567

G.T. 41

Glaxo wellcome brand OF busulfan

Glaxo Wellcome Brand of Busulfan

GlaxoSmithKline brand OF busulfan

GlaxoSmithKline Brand of Busulfan

Glyzophrol

GT 2041

GT 41

HMS1920I07

HMS2091O09

HMS502K09

HSDB 7605

I09-1371

IDI1_000847

InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3

KBio1_000847

KBio2_000512

KBio2_003080

KBio2_005648

KBio3_001420

KBioGR_000698

KBioSS_000512

Leucosulfan

Leucosulphan

LS-1358

Mablin

Methanesulfonic

Methanesulfonic acid, tetram ethylene ester

Methanesulfonic acid, tetramethylene ester

Mielevcin

Mielosan

Mielucin

Milecitan

Mileran

Misulban

Mitosan

Mitostan

MLS001076666

MolPort-001-783-406

Myeleukon

Myeloleukon

Myelosan

Myelosanum

Mylecytan

Myleran

Myléran

MYLERAN (TN)

Myleran tablets

Myleran Tablets

Myleran, Busulfex, Busulfan

Mylerlan

n-Butane-1,3-di(methylsulfonate)

N-Butane-1,3-di(methylsulfonate)

NCGC00090905-01

NCGC00090905-02

NCGC00090905-03

NCGC00090905-04

NCGC00090905-05

NCGC00090905-06

NCGC00090905-07

NCI60_041640

NCI-C01592

NCIMech_000192

NINDS_000847

NSC 750

NSC750

NSC-750

NSC-750sulphabutin

Orphan brand OF busulfan

Orphan Brand of Busulfan

Prestwick_989

S1692_Selleck

SAM002554887

SMR000058613

SPBio_000253

Spectrum_000092

SPECTRUM1500152

Spectrum2_000067

Spectrum3_000320

Spectrum4_000259

Spectrum5_000928

ST50825921

Sulfabutin

Sulfabutin (VAN)

Sulphabutin

Tetramethylene {bis[methanesulfonate]}

Tetramethylene bis(methanesulfonate)

Tetramethylene bis(methanesulfonic acid)

Tetramethylene bis(methanesulphonate)

Tetramethylene bis(methanesulphonic acid)

Tetramethylene bis[methanesulfonate]

Tetramethylene dimethane sulfonate

Tetramethylene Dimethane Sulfonate

Tetramethylenester kyseliny methansulfonove

Tetramethylenester Kyseliny Methansulfonove

Tetramethylenester kyseliny methansulfonove [Czech]

UNII-G1LN9045DK

Wellcome brand OF busulfan

Wellcome Brand of Busulfan

Wellcome, busulfan

Wellcome, Busulfan

WLN: WS1&O4OSW1

X 149

Mecasermin

Approved, Investigational

Phase 1, Phase 2

68562-41-4

Immunosuppressive Agents

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2

Alkylating Agents

Phase 1, Phase 2

Mitogens

Phase 1, Phase 2

Insulin, Globin Zinc

Phase 1, Phase 2

Hormones

Phase 1, Phase 2

insulin

Phase 1, Phase 2

Mycophenolic acid

Approved

Phase 1

24280-93-1

446541

Synonyms:

(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate

(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid

Acid, mycophenolic

Acide mycophenolique

Acido micofenolico

Acidum mycophenolicum

Cellcept

Melbex

Micofenolico acido

Mofetil hydrochloride, mycophenolate

Mofetil, mycophenolate

Mycophenoic acid

Mycophenolate

Mycophenolate mofetil

Mycophenolate mofetil hydrochloride

Mycophenolate sodium

Mycophenolate, sodium

Mycophenolic acid

Mycophenolic acid morpholinoethyl ester

Mycophenolsaeure

Mycophenolsäure

Myfortic

Sodium mycophenolate

Clotrimazole

Approved, Vet_approved

Phase 1

23593-75-1

2812

Synonyms:

(Chlorotrityl)imidazole

1-((2-Chlorophenyl)diphenylmethyl)-1H-imidazole

1-(a-(2-Chlorophenyl)benzhydryl)imidazole

1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole

1-(O-Chloro-a,a-diphenylbenzyl)imidazole

1-(O-Chloro-alpha,alpha-diphenylbenzyl)imidazole

1-(o-Chlorotrityl)imidazole

1-(O-Chlorotrityl)imidazole

1-(o-Chloro-α,α-diphenylbenzyl)imidazole

1-(O-Chloro-α,α-diphenylbenzyl)imidazole

1-(α-(2-Chlorophenyl)benzhydryl)imidazole

1-(Α-(2-chlorophenyl)benzhydryl)imidazole

117829-71-7

23593-75-1

33894_FLUKA

33894_RIEDEL

3ACDFDF8-38E3-4368-85D0-BDF8AE1E6591

AB00051951

AC1L1EIW

AC-279

B 5097

BAY 5097

Bay b 5097

BAY b 5097

Bay b 9057

BAY b5097

BAY-5097

Bay-B 5097

BAYb 5097

Bayer brand 1 OF clotrimazole

Bayer Brand 1 of Clotrimazole

Bayer brand 2 OF clotrimazole

Bayer Brand 2 of Clotrimazole

BIDD:GT0450

BIDD:PXR0036

Bio-0442

BPBio1_000126

BRN 0622318

BSPBio_000114

BSPBio_002057

C 6019

C06922

C22H17ClN2

C6019_SIGMA

Canesten

Canesten 1-day cream combi-pak

Canesten 1-Day Cream Combi-Pak

Canesten 1-day therapy

Canesten 1-Day Therapy

Canesten 3-day therapy

Canesten 3-Day Therapy

Canesten 6-day therapy

Canesten 6-Day Therapy

Canesten combi-pak 1-day therapy

Canesten Combi-Pak 1-Day Therapy

Canesten combi-pak 3-day therapy

Canesten Combi-Pak 3-Day Therapy

Canesten cream

Canesten Cream

Canesten solution

Canesten Solution

Canestene

Canestine

Canifug

CAS-23593-75-1

CCRIS 6245

CHEBI:3764

CHEMBL104

Chlotrimazole

CID2812

Cimitidine

Clomatin

Clotrimaderm

Clotrimaderm cream

Clotrimazol

Clotrimazol [INN-Spanish]

clotrimazole

Clotrimazole

Clotrimazole (JP15/USP/INN)

Clotrimazole [USAN:INN:BAN:JAN]

Clotrimazole schering brand

Clotrimazole Schering Brand

Clotrimazolum

Clotrimazolum [INN-Latin]

clotrimeizol

CPD000058306

CPD-8926

Cutistad

D00282

D003022

DB00257

Desamix F

DivK1c_000665

DRG-0072

EINECS 245-764-8

Empecid

Esparol

EU-0100315

FB 5097

FB b 5097

Fem care

Fem Care

FemCare

Gino-Lotremine

Gyne lotrimin

Gyne-lotrimin

Gyne-Lotrimin

Gyne-lotrimin 3

Gyne-Lotrimin 3

Gyne-lotrimin 3 combination pack

Gyne-Lotrimin 3 Combination Pack

Gyne-lotrimin combination pack

Gyne-Lotrimin Combination Pack

Gyne-lotrimin3

Gyne-lotrimin3 combination pack

Gynix

HMS1568F16

HMS1920O21

HMS2051E11

HMS2091G10

HMS502B07

HSDB 3266

I01-3474

IDI1_000665

Kanesten

KBio1_000665

KBio2_001823

KBio2_004391

KBio2_006959

KBio3_001277

KBioGR_000850

KBioSS_001823

Klotrimazole

Lopac0_000315

Lopac-C-6019

Lotrimax

Lotrimin

Lotrimin (TN)

Lotrimin af

Lotrimin Af

Lotrimin af cream

Lotrimin AF Cream

Lotrimin af jock-itch cream

Lotrimin AF Jock-Itch Cream

Lotrimin af lotion

Lotrimin AF Lotion

Lotrimin af solution

Lotrimin AF Solution

Lotrimin cream

Lotrimin Cream

Lotrimin lotion

Lotrimin Lotion

Lotrimin solution

Lotrimin Solution

Lotrisone

LS-78271

MLS000028502

MLS000758243

MLS001423972

MolPort-002-557-756

mono-Baycuten

Monobaycuten

Mono-baycuten

Mycelax

Mycelex

Mycelex (TN)

Mycelex 7

Mycelex cream

Mycelex Cream

Mycelex g

Mycelex G

Mycelex otc

Mycelex OTC

Mycelex solution

Mycelex Solution

Mycelex troches

Mycelex Troches

Mycelex twin pack

Mycelex Twin Pack

Mycelex: mycosporinrimazole

Mycelex: MycosporinRimazole

Mycelex-7

Mycelex-7 combination pack

Mycelex-7 Combination Pack

Mycelex-g

Mycelex-G

Myclo cream

Myclo Cream

Myclo solution

Myclo Solution

Myclo spray solution

Myclo Spray Solution

Myclo-gyne

Myclo-Gyne

Mycofug

Mycosporin

Mykosporin

Nalbix

NCGC00015251-01

NCGC00015251-02

NCGC00015251-03

NCGC00015251-09

NCGC00093761-01

NCGC00093761-02

NCGC00093761-03

NCGC00093761-04

NCGC00093761-05

NCGC00093761-06

nchembio.65-comp9

nchembio790-comp30

NCIMech_000609

Neo-zol cream

Neo-Zol Cream

NINDS_000665

NSC 257473

NSC257473

Otomax

Pan-Fungex

Pedisafe

Prestwick_120

Prestwick0_000267

Prestwick1_000267

Prestwick2_000267

Prestwick3_000267

QTL1_000024

Rimazole

S1606_Selleck

SAM001247056

Schering brand OF clotrimazole

Schering Brand of Clotrimazole

SMR000058306

SPBio_000176

SPBio_002333

Spectrum_001343

SPECTRUM1500200

Spectrum2_000128

Spectrum3_000359

Spectrum4_000295

Spectrum5_000781

Stiemazol

STK700023

Tibatin

Trimysten

Trivagizole 3

UNII-G07GZ97H65

Veltrim

ZINC03807804

Miconazole

Approved, Investigational, Vet_approved

Phase 1

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Antibiotics, Antitubercular

Phase 1

Antifungal Agents

Phase 1

Antitubercular Agents

Phase 1

Anti-Infective Agents

Phase 1

Anti-Bacterial Agents

Phase 1

Antirheumatic Agents

Phase 1

Cyclosporins

Phase 1

Dermatologic Agents

Phase 1

Calcineurin Inhibitors

Phase 1

Neurotransmitter Agents

Analgesics

Anti-Arrhythmia Agents

Vasodilator Agents

Interventional clinical trials:

(show all 18)

#	Name	Status	NCT ID	Phase	Drugs
1	A Single Arm, Open Label Clinical Study to Enable Process Validation of Commercial Grade Ex Vivo Hematopoietic Stem Cell Gene Therapy (OTL-101) in Subjects With Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID)	Suspended	NCT04140539	Phase 2, Phase 3
2	Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2	Unknown status	NCT01410019	Phase 1, Phase 2
3	Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID)	Completed	NCT01852071	Phase 1, Phase 2	busulfan;PEG-ADA ERT
4	Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector （TYF-IL-2Rg）	Recruiting	NCT03217617	Phase 1, Phase 2
5	Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning	Recruiting	NCT03311503	Phase 1, Phase 2
6	Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency	Recruiting	NCT01306019	Phase 1, Phase 2	Palifermin;Busulfan
7	Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency	Recruiting	NCT03315078	Phase 1, Phase 2	Palifermin;Busulfan
8	A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Using a Self-Inactivating Lentiviral Vector to Transduce Autologous CD34+ Hematopoietic Cells	Recruiting	NCT01512888	Phase 1, Phase 2	Busulfan
9	Multi-institutional Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer	Active, not recruiting	NCT01129544	Phase 1, Phase 2
10	Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency (XSCID): A Phase 2 Study Assessing Safety and Clinical Response to Treatment With Insulin-like Growth Factor-1 (IGF-1)	Terminated	NCT00490100	Phase 1, Phase 2	Increlex
11	Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID)	Completed	NCT00028236	Phase 1	Gene-Transduced Autologous CD34+ Stem Cells
12	Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil	Completed	NCT00008450	Phase 1	Cyclosporine;Mycophenolate Mofetil
13	Phase I/II Study of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan	Recruiting	NCT03601286	Phase 1	Lentiviral vector transduced CD34+ cells
14	Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector	Unknown status	NCT01175239
15	Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID)	Completed	NCT00006335
16	Gene Therapy for X Linked Severe Combined Immunodeficiency	Recruiting	NCT04286815
17	An Observational Long-term Follow-up Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID)	Enrolling by invitation	NCT04049084
18	cliniMACs HUD for T Cell Depletion	No longer available	NCT02915406

Search NIH Clinical Center for Severe Combined Immunodeficiency, X-Linked

Cochrane evidence based reviews: x-linked combined immunodeficiency diseases

Sources

Genetic Tests for Severe Combined Immunodeficiency, X-Linked

Genetic tests related to Severe Combined Immunodeficiency, X-Linked:

#	Genetic test	Affiliating Genes
1	X-Linked Severe Combined Immunodeficiency ²⁹	IL2RG

Sources

Anatomical Context for Severe Combined Immunodeficiency, X-Linked

MalaCards organs/tissues related to Severe Combined Immunodeficiency, X-Linked:

⁴⁰

T Cells, Bone Marrow, Nk Cells, Bone, B Cells, Lymph Node, Thymus

Sources

Publications for Severe Combined Immunodeficiency, X-Linked

Articles related to Severe Combined Immunodeficiency, X-Linked:

(show top 50) (show all 471)

#	Title	Authors	PMID	Year
1	Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. ²⁵ ⁶ ⁵⁷ ⁵⁴ ⁶¹	Noguchi M...Leonard WJ	8462096	1993
2	Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. ⁶¹ ⁶ ⁵⁷ ²⁵	Stephan V...de Saint Basile G	8900089	1996
3	Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. ⁵⁴ ⁶¹ ⁶ ⁵⁷	Speckmann C...Ehl S	18728247	2008
4	Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. ⁶ ⁵⁷ ⁶¹	Ting SS...Ziegler JB	10444186	1999
5	Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. ⁶¹ ²⁵ ⁶ ⁵⁴	Clark PA...Kinnon C	7557965	1995
6	The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. ²⁵ ⁶ ⁵⁴ ⁶¹	Puck JM...Henthorn PS	8401490	1993
7	Efficacy of gene therapy for X-linked severe combined immunodeficiency. ⁵⁷ ²⁵ ⁶¹	Hacein-Bey-Abina S...Cavazzana-Calvo M	20660403	2010
8	Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. ²⁵ ⁵⁷ ⁵⁴	Buckley RH...Puck JM	9063412	1997
9	T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient. ⁶ ²⁵ ⁵⁴	Morelon E...de Saint Basile G	8781427	1996
10	X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. ⁵⁷ ²⁵ ⁶¹	Conley ME...Puck JM	2332505	1990
11	Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. ⁶ ⁶¹ ⁵⁴	Noguchi M...Leonard WJ	18941169	2008
12	Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. ⁵⁷ ²⁵	Buckley RH...Ward FE	10021471	1999
13	IL2RGbase: a database of gamma c-chain defects causing human X-SCID. ⁶ ²⁵	Puck JM	8961626	1996
14	Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. ⁶¹ ⁵⁴ ⁶	Izuhara K...Harada N	8557662	1996
15	Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. ⁶¹ ⁵⁴ ⁶	Pepper AE...Puck JM	7668284	1995
16	Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. ⁵⁴ ⁶¹ ⁶	Puck JM...Laframboise R	7860773	1995
17	Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. ⁵⁷ ⁵⁴ ⁶¹	Deschenes SM...Henthorn PS	7829103	1994
18	IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. ⁵⁴ ⁶¹ ⁵⁷	Henthorn PS...Felsburg PJ	7829104	1994
19	The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c. ⁵⁷ ⁵⁴ ⁶¹	Leonard WJ...McBride OW	8070818	1994
20	Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. ²⁵ ⁵⁷	Stephan JL...Fischer A	8410508	1993
21	Failure of SCID-X1 gene therapy in older patients. ⁶¹ ⁵⁷	Thrasher AJ...Cavazzana-Calvo M	15687233	2005
22	LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. ⁶¹ ⁵⁷	Hacein-Bey-Abina S...Cavazzana-Calvo M	14564000	2003
23	A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. ⁶¹ ⁵⁷	Hacein-Bey-Abina S...Fischer A	12529469	2003
24	A critical role for IL-21 in regulating immunoglobulin production. ⁵⁷ ⁶¹	Ozaki K...Leonard WJ	12446913	2002
25	Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. ⁵⁷ ⁶¹	Hacein-Bey-Abina S...Cavazzana-Calvo M	11961146	2002
26	Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. ⁵⁴ ²⁵ ⁶¹	Fanos JH...Puck JM	11426455	2001
27	Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. ⁶¹ ⁵⁴ ²⁵	Niemela JE...Hsu AP	10794430	2000
28	Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. ²⁵ ⁵⁴ ⁶¹	Puck JM...Pepper AE	9150730	1997
29	Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. ⁶¹ ⁵⁴ ²⁵	Puck JM...Buckley RH	9058718	1997
30	Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. ²⁵ ⁶¹ ⁵⁴	O'Marcaigh AS...Cowan MJ	9049783	1997
31	Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. ⁶¹ ⁵⁷	Flake AW...Zanjani ED	8943162	1996
32	Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. ⁶¹ ²⁵ ⁵⁴	Schmalstieg FC...Goldman AS	7883965	1995
33	Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. ⁵⁷ ⁶¹	Wengler GS...Conley ME	8093460	1993
34	X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus. ⁶¹ ⁵⁷	Hendriks RW...Schuurman RK	1395081	1992
35	Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. ⁶¹ ⁵⁷	Puck JM...Nussbaum RL	1550118	1992
36	Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes. ⁶¹ ⁵⁷	Goodship J...Levinsky RJ	1988230	1991
37	Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male. ⁵⁷ ⁶¹	Goodship J...Malcolm S	2606471	1989
38	X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. ⁶¹ ⁵⁷	Puck JM...Conley ME	2565084	1989
39	Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. ⁶¹ ⁵⁷	Goodship J...Levinsky RJ	2895261	1988
40	Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. ⁶¹ ⁵⁷	Puck JM...Conley ME	2883199	1987
41	Lymphocyte subpopulations in X-linked severe combined immunodeficiency (SCID). Evidence against a stem cell defect. Transformation response to calcium inophore A23187. ⁶¹ ⁵⁷	Yount WJ...Folds JD	360838	1978
42	Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. ²⁵ ⁶¹	Okuno Y...Kanegane H	26407811	2015
43	Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. ⁶¹ ²⁵	Fuchs S...Ehl S	25042067	2014
44	A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. ⁶¹ ²⁵	Hacein-Bey-Abina S...Thrasher AJ	25295500	2014
45	Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. ²⁵ ⁶¹	Zhang C...Zhao XD	22105576	2013
46	Gene therapy: therapeutic gene causing lymphoma. ⁵⁷	Woods NB...Verma IM	16641981	2006
47	A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. ⁵⁷	Kellermayer R...Puck JM	16601912	2006
48	Highly efficient endogenous human gene correction using designed zinc-finger nucleases. ⁵⁷	Urnov FD...Holmes MC	15806097	2005
49	Gene therapy insertional mutagenesis insights. ⁵⁷	Dave UP...Copeland NG	14726584	2004
50	Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. ⁵⁷	Buckley RH	15032591	2004

Sources

Genes for Severe Combined Immunodeficiency, X-Linked

Genes/enhancers related to Severe Combined Immunodeficiency, X-Linked (1 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IL2RG	Interleukin 2 Receptor Subunit Gamma	Protein Coding	1714.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	18941169 8401490 10794430 (more) 9049783 7668284 7860773 7557965 9797872 7481768 16508910 18688285 9063412 8462096 17369490 15108287 10807771 8070818 19337236 19234229 9843216 9633906 9150730 19189700 17155998 12435740 11426455 11319919 11264344 9058718 8717512 8522327 10898497 9921912 8541866 16680939 8088810 18728247 15610804 19286997 18046520 10741387 7805729 16138102 17363735
1	IL2RG::GH0XJ071100	TSS distance: +4.6kb Elite enhancer with elite association with IL2RG			Curated enhancer-disease association ²⁴ ( 27569544 )	26525228
2	LMO2	LIM Domain Only 2	Protein Coding	19.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	19440365 19461887 17726455 (more) 18227842
3	IL9	Interleukin 9	Protein Coding	18.7	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8605322 14966353 7481768 (more) 10889304 12857971 8568244 9633906 9843216 8781427 7697543 12014808 7659163 9316288 9921912 10507301 8676091 12435740
4	IL7	Interleukin 7	Protein Coding	18.45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8026467 8605322 14966353 (more) 7481768 8943859 7718508 9834214 10889304 12857971 8568244 9633906 9843216 8183373 8781427 9885222 7697543 9479568 12014808 7659163 9316288 9921912 10507301 8676091 12435740
5	JAK3	Janus Kinase 3	Protein Coding	17.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	7973658 9063412 9843216 (more) 8557662 8795294
6	IL15	Interleukin 15	Protein Coding	17.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	7632950 8026467 7803808 (more) 8605322 14966353 16138102 12014808 9316288 8676091 12435740 10507301 7659163 7481768 7718508 12857971 8568244 9633906
7	IL2	Interleukin 2	Protein Coding	16.7	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8299698 7937790 7930609 (more) 8128231 8026467 7803808 7860773 7481768 9705347 12857971 9633906 9716584 9479568 7697543 17369490 8781427 7632950 7887307 8195317 9843216 12435740 8676091 17456723 10507301 9921912 7659163 12014808 9933465 8568244 10889304 7718508 7557965 8605322 14966353 16138102
8	ADA	Adenosine Deaminase	Protein Coding	16.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	12901330 15100660 9063412 (more) 19277017 17035665
9	IL4	Interleukin 4	Protein Coding	15.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8557662 7937790 8026467 (more) 7803808 8605322 7718508 10889304 8568244 9843216 7887307 7659163 12014808 9479568 9095654 7697543 9885222 9022007 8781427 7633846 12435740 11874464 8676091 10507301 9921912 9316288 8183373 9633906 12857971 9054429 7481768 14966353 16138102
10	IL7R	Interleukin 7 Receptor	Protein Coding	15.25	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	7865464 10098325
11	IL21	Interleukin 21	Protein Coding	14.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	14966353 16138102 12435740
12	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	14.25	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	9371254 7937790 7907259 (more) 8998263 15108287 7865464 10098325
13	IL2RB	Interleukin 2 Receptor Subunit Beta	Protein Coding	13.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16138102 7718508 7523745 (more) 7632950 7633846 7829104 8750273 7829103 7865464
14	IL4R	Interleukin 4 Receptor	Protein Coding	13.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8998263 7865464 10098325
15	JAK1	Janus Kinase 1	Protein Coding	12.33	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	7973658
16	TSLP	Thymic Stromal Lymphopoietin	Protein Coding	12.03	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	15263024
17	STAT6	Signal Transducer And Activator Of Transcription 6	Protein Coding	11.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8557662
18	KITLG	KIT Ligand	Protein Coding	10.48	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	9834214
19	GHR	Growth Hormone Receptor	Protein Coding	10.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	14767497 17082603
20	CFP	Complement Factor Properdin	Protein Coding	9.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	1528025
21	IL13	Interleukin 13	Protein Coding	9.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	8557662 7803808 9022007
22	IL18R1	Interleukin 18 Receptor 1	Protein Coding	9.55	Novoseek inferred ⁵⁴	7883965 12193946 14966353 (more) 10933924 10202241 7659163 8717512 10098325
23	CD34	CD34 Molecule	Protein Coding	7.4	DISEASES inferred ¹⁵

Sources

Variations for Severe Combined Immunodeficiency, X-Linked

ClinVar genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

⁶ (show top 50) (show all 118)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IL2RG	NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter)	SNV	Pathogenic	10016	rs137852507	X:70330453-70330453	X:71110603-71110603
2	IL2RG	IL2RG, ARG267TER	SNV	Pathogenic	10017
3	IL2RG	NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter)	SNV	Pathogenic	10018	rs137852509	X:70328128-70328128	X:71108278-71108278
4	IL2RG	NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter)	SNV	Pathogenic	10019	rs111033619	X:70330830-70330830	X:71110980-71110980
5	IL2RG	NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp)	SNV	Pathogenic	10020	rs111033620	X:70330467-70330467	X:71110617-71110617
6	IL2RG	NM_000206.2(IL2RG):c.454+1G>A	SNV	Pathogenic	10021	rs1569480018	X:70330353-70330353	X:71110503-71110503
7	IL2RG	NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn)	SNV	Pathogenic	10022	rs111033621	X:70330142-70330142	X:71110292-71110292
8	IL2RG	NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup)	Duplication	Pathogenic	10024	rs587776729	X:70329123-70329124	X:71109273-71109274
9	IL2RG	NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg)	SNV	Pathogenic	10025	rs111033622	X:70330465-70330465	X:71110615-71110615
10	IL2RG	NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro)	SNV	Pathogenic	10028	rs137852511	X:70330356-70330356	X:71110506-71110506
11	IL2RG	NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter)	SNV	Pathogenic	463378	rs1556331272	X:70331290-70331290	X:71111440-71111440
12	IL2RG	NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter)	SNV	Pathogenic	463384	rs1556330234	X:70329115-70329115	X:71109265-71109265
13	IL2RG	NM_000206.2(IL2RG):c.270-15A>G	SNV	Pathogenic	265194	rs886039387	X:70330553-70330553	X:71110703-71110703
14	IL2RG	NM_000206.2(IL2RG):c.758-1G>A	SNV	Pathogenic	280937	rs886042051	X:70328546-70328546	X:71108696-71108696
15	IL2RG	NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter)	SNV	Pathogenic	463382	rs1556330286	X:70329233-70329233	X:71109383-71109383
16	IL2RG	NM_000206.2(IL2RG):c.903_910del (p.Glu302fs)	Deletion	Pathogenic	463387	rs1556329779	X:70328141-70328148	X:71108291-71108298
17	IL2RG	NM_000206.2(IL2RG):c.455T>G (p.Val152Gly)	SNV	Pathogenic	624584	rs193922348	X:70330145-70330145	X:71110295-71110295
18	IL2RG	NM_000206.2(IL2RG):c.421C>T (p.Gln141Ter)	SNV	Pathogenic	449330	rs1556330713	X:70330387-70330387	X:71110537-71110537
19	IL2RG	NM_000206.3(IL2RG):c.294del (p.Val99fs)	Deletion	Pathogenic	858175		X:70330514-70330514	X:71110664-71110664
20	IL2RG	NM_000206.2(IL2RG):c.703C>T (p.Gln235Ter)	SNV	Pathogenic	503682	rs1556330249	X:70329132-70329132	X:71109282-71109282
21	IL2RG	NM_000206.2(IL2RG):c.594+2_594+3del	Microsatellite	Pathogenic	643411	rs1602289183	X:70330003-70330004	X:71110153-71110154
22	IL2RG	NM_000206.2(IL2RG):c.87del (p.Asn31fs)	Deletion	Pathogenic	619010	rs1602289943	X:70331303-70331303	X:71111453-71111453
23	IL2RG	NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter)	SNV	Pathogenic	649486	rs1602289411	X:70330378-70330378	X:71110528-71110528
24	IL2RG	NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)	SNV	Pathogenic	941327		X:70330809-70330809	X:71110959-71110959
25	IL2RG	NM_000206.3(IL2RG):c.455-2A>C	SNV	Pathogenic	947759		X:70330147-70330147	X:71110297-71110297
26	IL2RG	NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter)	SNV	Pathogenic	951211		X:70330050-70330050	X:71110200-71110200
27	IL2RG	NM_000206.3(IL2RG):c.603_604del (p.Val202fs)	Deletion	Pathogenic	957973		X:70329231-70329232	X:71109381-71109382
28	IL2RG	NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter)	SNV	Pathogenic	532189	rs1556330568	X:70330078-70330078	X:71110228-71110228
29	IL2RG	NM_000206.2(IL2RG):c.548del (p.Leu183fs)	Deletion	Pathogenic	532190	rs1556330562	X:70330052-70330052	X:71110202-71110202
30	IL2RG	NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)	Insertion	Pathogenic	817464	rs1602289631	X:70330790-70330791	X:71110940-71110941
31	IL2RG	NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)	Duplication	Pathogenic	943308		X:70330846-70330847	X:71110996-71110997
32	IL2RG	NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter)	SNV	Pathogenic	569485	rs1569480047	X:70330538-70330538	X:71110688-71110688
33	IL2RG	NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs)	Microsatellite	Pathogenic	658867	rs1602288051	X:70327737-70327738	X:71107887-71107888
34	IL2RG	NC_000023.11:g.(?_71108277)_(71108346_?)del	Deletion	Pathogenic	463377		X:70328127-70328196	X:71108277-71108346
35	IL2RG	NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln)	SNV	Pathogenic	10023	rs137852510	X:70328173-70328173	X:71108323-71108323
36	IL2RG	NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln)	SNV	Pathogenic	10026	rs111033617	X:70328449-70328449	X:71108599-71108599
37	IL2RG	NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter)	SNV	Pathogenic	36389	rs137852508	X:70328186-70328186	X:71108336-71108336
38	IL2RG	NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp)	SNV	Pathogenic	225194	rs869320658	X:70329165-70329165	X:71109315-71109315
39	IL2RG	NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys)	SNV	Pathogenic	225195	rs869320659	X:70329159-70329159	X:71109309-71109309
40	IL2RG	NM_000206.2(IL2RG):c.677G>A (p.Arg226His)	SNV	Pathogenic	225196	rs869320660	X:70329158-70329158	X:71109308-71109308
41	IL2RG	NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter)	SNV	Pathogenic	463379	rs1556330552	X:70330038-70330038	X:71110188-71110188
42	IL2RG	NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys)	SNV	Pathogenic	225195	rs869320659	X:70329159-70329159	X:71109309-71109309
43	IL2RG	NM_000206.2(IL2RG):c.455T>C (p.Val152Ala)	SNV	Pathogenic/Likely pathogenic	36386	rs193922348	X:70330145-70330145	X:71110295-71110295
44	IL2RG	NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys)	SNV	Likely pathogenic	992514		X:70330434-70330434	X:71110584-71110584
45	IL2RG	NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)	Insertion	Likely pathogenic	981080		X:70330448-70330449	X:71110598-71110599
46	IL2RG	NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter)	SNV	Likely pathogenic	418656	rs1064793347	X:70327714-70327714	X:71107864-71107864
47	IL2RG	NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys)	SNV	Likely pathogenic	379561	rs1057520644	X:70330814-70330814	X:71110964-71110964
48	IL2RG	NM_000206.2(IL2RG):c.43C>T (p.Gln15Ter)	SNV	Likely pathogenic	372386	rs1057517747	X:70331347-70331347	X:71111497-71111497
49	IL2RG	NM_000206.2(IL2RG):c.270-1G>T	SNV	Likely pathogenic	36384	rs193922346	X:70330539-70330539	X:71110689-71110689
50	IL2RG	NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys)	SNV	Likely pathogenic	36385	rs193922347	X:70330494-70330494	X:71110644-71110644

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

⁷³ (show all 31)

#	Symbol	AA change	Variation ID	SNP ID
1	IL2RG	p.Asp39Asn	VAR_002668
2	IL2RG	p.Cys62Gly	VAR_002669
3	IL2RG	p.Glu68Gly	VAR_002670
4	IL2RG	p.Glu68Lys	VAR_002671	rs105752064
5	IL2RG	p.Asn84Lys	VAR_002672
6	IL2RG	p.Tyr89Cys	VAR_002673
7	IL2RG	p.Tyr105Cys	VAR_002674	rs193922347
8	IL2RG	p.Gly114Asp	VAR_002675	rs111033620
9	IL2RG	p.Cys115Phe	VAR_002676
10	IL2RG	p.Cys115Arg	VAR_002677	rs111033622
11	IL2RG	p.His123Pro	VAR_002678
12	IL2RG	p.Tyr125Asn	VAR_002679
13	IL2RG	p.Gln144Pro	VAR_002680
14	IL2RG	p.Ile153Asn	VAR_002681	rs111033621
15	IL2RG	p.Ala156Val	VAR_002682	rs105752106
16	IL2RG	p.Leu162His	VAR_002683
17	IL2RG	p.Leu172Pro	VAR_002684
18	IL2RG	p.Leu172Gln	VAR_002685
19	IL2RG	p.Cys182Arg	VAR_002686
20	IL2RG	p.Leu183Ser	VAR_002687
21	IL2RG	p.Arg224Trp	VAR_002689	rs869320658
22	IL2RG	p.Arg226Cys	VAR_002690	rs869320659
23	IL2RG	p.Arg226His	VAR_002691	rs869320660
24	IL2RG	p.Phe227Cys	VAR_002692
25	IL2RG	p.Leu230Pro	VAR_002693
26	IL2RG	p.Cys231Tyr	VAR_002694
27	IL2RG	p.Gly232Arg	VAR_002695	rs156947990
28	IL2RG	p.Trp240Cys	VAR_002697
29	IL2RG	p.Ser241Ile	VAR_002698
30	IL2RG	p.Met270Arg	VAR_002699
31	IL2RG	p.Arg285Gln	VAR_002701	rs111033617

Sources

Expression for Severe Combined Immunodeficiency, X-Linked

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, X-Linked.

Sources

Pathways for Severe Combined Immunodeficiency, X-Linked

Pathways related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show top 50) (show all 54)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	14.13	STAT6 KITLG JAK3 JAK1 IL9 IL7R
2	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.91	STAT6 KITLG JAK3 JAK1 IL9 IL7R
3	PEDF Induced Signaling ⁶³ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶³ Cytokine-cytokine receptor interaction ³⁶ Endothelin-1 Signaling Pathway ⁶³ Glucocorticoid Receptor Signaling ⁶³ IL-6 Pathway ⁶³ MIF Mediated Glucocorticoid Regulation ⁶³ MIF Regulation of Innate Immune Cells ⁶³ NFAT Signaling and Lymphocyte Interactions ⁶³ PGC1Alpha Pathway ⁶³ RAR-Gamma-RXR-Alpha Degradation ⁶³ STAT3 Pathway ⁶³	13.78	TSLP JAK3 IL9 IL7R IL7 IL4R
4	TGF-Beta Pathway ⁶³ Show member pathways JAK-STAT Pathway ⁶³ JNK Pathway ⁶³ MAPK Family Pathway ⁶³ Regulation of eIF4 and p70S6K ⁶³ SOCS Pathway ⁶³	13.64	STAT6 KITLG JAK3 JAK1 IL9 IL7R
5	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.45	STAT6 KITLG JAK3 JAK1 IL9 IL7R
6	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.42	KITLG IL9 IL7R IL7 IL4R IL4
7	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.39	STAT6 KITLG JAK3 JAK1 IL9 IL7R
8	IL-2 Pathway ⁶³ Show member pathways ErbB Family Pathway ⁶³ ErbB2-ErbB3 Heterodimers ⁶³ ErbB4 Pathway ⁶³ Growth Hormone Signaling ⁶³ HMGB1 Pathway ⁶³ IL-4 Pathway ⁶³ LPS Stimulated MAPK Signaling ⁶³ PACAP Signaling ⁶³ PI3K Signaling in B-Lymphocyte ⁶³ Prolactin Signaling ⁶³ Thrombopoietin Pathway ⁶³ TREM1 Pathway ⁶³ UVC-Induced MAPK Signaling ⁶³	13.36	STAT6 JAK3 JAK1 IL4R IL4 IL2RG
9	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	13.12	KITLG JAK1 IL9 IL4R IL4 IL2RA
10	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.09	KITLG JAK3 JAK1 IL7R IL7 IL4R
11	Allograft rejection ³⁶ ¹ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.92	IL9 IL4 IL2RA IL21 IL2 IL15
12	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.89	JAK3 JAK1 IL2RG IL2RB IL2RA IL2
13	Pathways in cancer ³⁶	12.79	STAT6 KITLG JAK3 JAK1 IL7R IL7
14	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease ³⁶ Th1 and Th2 cell differentiation ³⁶	12.75	STAT6 JAK3 JAK1 IL4R IL4 IL2RG
15	NF-kappaB Signaling ⁴	12.73	STAT6 KITLG JAK3 JAK1 IL4 IL2RB
16	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁴ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁴ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁴ IL-2 Signaling Pathways ⁶⁴ IL-21 Signaling Pathways ⁶⁴ IL-4 Signaling Pathways ⁶⁴ IL-7 Signaling Pathways ⁶⁴ IL-9 Pathway ⁶³ IL-9 Signaling Pathways ⁶⁴ Immune response IL-9 signaling pathway ²³	12.68	STAT6 JAK3 JAK1 IL9 IL7R IL7
17	Development IGF-1 receptor signaling ²³ Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²³ Signal transduction AKT signaling ²³	12.55	STAT6 JAK3 JAK1 IL4R IL4 IL2RG
18	Human T-cell leukemia virus 1 infection ³⁶	12.53	JAK3 JAK1 IL2RG IL2RB IL2RA IL2
19	Autophagy Pathway ⁶⁶	12.44	IL7R IL4R IL2RB IL2RA IL21 IL15
20	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	12.43	KITLG JAK1 IL9 IL4 IL2RA IL2
21	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.4	IL2RG IL2RB IL2RA IL2
22	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.4	JAK1 IL7R IL4R IL2RB IL2RA IL21
23	Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions ⁶⁴ Show member pathways Chemokine receptors bind chemokines ⁶⁵ Viral protein interaction with cytokine and cytokine receptor ³⁶	12.35	IL2RG IL2RB IL2RA IL2
24	G beta-gamma signalling through PI3Kgamma ⁶⁵ Show member pathways G-protein beta-gamma signalling ⁶⁵ GPVI-mediated activation cascade ⁶⁵	12.33	JAK3 JAK1 IL2RG IL2RB IL2RA IL2
25	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	12.27	JAK3 JAK1 IL2RG IL2RB IL2RA IL2
26	Interleukin-4 and 13 signaling ⁶⁵	12.19	STAT6 JAK3 JAK1 IL4R IL4 IL2RG
27	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²³	12.18	STAT6 IL4 IL2RG IL2RB IL2RA IL2
28	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	12.16	KITLG IL7R IL7 IL4 IL2RB IL2RA
29	Hematopoietic cell lineage ³⁶	12.11	KITLG IL7R IL7 IL4R IL4 IL2RA
30	Th17 Differentiation Pathway ⁶⁴ Show member pathways IL-21 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	12.06	JAK3 JAK1 IL4R IL4 IL2RG IL21
31	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	11.96	JAK3 JAK1 IL2RG IL21
32	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	11.92	TSLP IL9 IL7R IL7 IL4 IL2RB
33	JAK-STAT signaling pathway ³⁶ Show member pathways B-Cell Development ⁶³ IL-7 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Interleukin-19, 20, 22, 24 ⁶⁵ Jak/STAT Signaling Pathway ⁶⁴ Type III interferon signaling ¹	11.92	TSLP STAT6 JAK3 JAK1 IL9 IL7R
34	IL2 signaling events mediated by PI3K ¹ Show member pathways IL2 signaling events mediated by STAT5 ¹	11.91	JAK3 JAK1 IL4 IL2RG IL2RB IL2RA
35	IL4-mediated signaling events ¹	11.86	STAT6 JAK3 JAK1 IL4R IL4 IL2RG
36	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.78	IL2RG IL2RB IL2RA IL2
37	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ¹	11.77	IL4 IL2RA IL2
38	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	11.73	TSLP STAT6 JAK1 IL7R IL2RA
39	IgA-Producing B Cells in the Intestine ⁶⁴	11.71	IL4 IL2RA IL21
40	Th2 Differentiation Pathway ⁶⁴	11.68	STAT6 JAK3 JAK1 IL9 IL4R IL4
41	Commom Cytokine Receptor G Chain Siganaling Pathway ⁶⁶	11.66	STAT6 JAK3 JAK1 IL9 IL7R IL7
42	IL-7 Signaling Pathway ¹ Show member pathways IL-9 Signaling Pathway ¹	11.64	JAK3 JAK1 IL9 IL7R IL7 IL2RG
43	IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Show member pathways IL-2 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.58	IL2RG IL2RB IL2RA IL2 IL15
44	Primary immunodeficiency ³⁶	11.57	JAK3 IL7R IL2RG ADA
45	Inflammatory Response Pathway ¹	11.54	IL4R IL4 IL2RG IL2RB IL2RA IL2
46	Signaling events mediated by TCPTP ¹ Show member pathways MET activates PI3K/AKT signaling ⁶⁵	11.51	STAT6 JAK3 JAK1
47	Development and heterogeneity of the ILC family ¹	11.51	TSLP IL9 IL7 IL4 IL15
48	Cytokines and Inflammatory Response ¹	11.45	IL7 IL4 IL2 IL15
49	Interleukin-7 signaling ⁶⁵	11.44	JAK3 JAK1 IL7R IL7 IL2RG
50	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	11.41	JAK3 JAK1 IL2RG IL2RB IL2RA IL2

Sources

GO Terms for Severe Combined Immunodeficiency, X-Linked

Cellular components related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	9.8	IL2RG IL2RB IL2RA IL15 GHR ADA
2	extracellular region	GO:0005576	9.73	TSLP KITLG IL9 IL7R IL7 IL4R
3	external side of plasma membrane	GO:0009897	9.63	IL7R IL2RG IL2RB IL2RA GHR ADA
4	extracellular space	GO:0005615	9.4	TSLP KITLG IL9 IL7 IL4R IL4
5	interleukin-2 receptor complex	GO:0005893	9.26	IL2RB IL2RA

Biological processes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 45)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.31	TSLP STAT6 KITLG IL7R IL7 IL4R
2	positive regulation of cell proliferation	GO:0008284	10.16	TSLP KITLG IL9 IL7R IL7 IL4
3	negative regulation of apoptotic process	GO:0043066	10.12	TSLP KITLG IL7 IL4 IL2RB IL2
4	MAPK cascade	GO:0000165	10.08	KITLG JAK3 JAK1 IL2RG IL2RB IL2RA
5	negative regulation of inflammatory response	GO:0050728	9.93	IL4 IL2RA IL2 ADA
6	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.93	TSLP IL4 IL21 IL2 IL15 GHR
7	positive regulation of B cell proliferation	GO:0030890	9.92	IL7 IL4 IL21 IL2 ADA
8	positive regulation of T cell proliferation	GO:0042102	9.91	JAK3 IL4 IL2RA IL21 IL2 IL15
9	positive regulation of inflammatory response	GO:0050729	9.9	TSLP IL21 IL2 IL15
10	immune response	GO:0006955	9.9	IL9 IL7R IL7 IL4R IL4 IL2RG
11	positive regulation of cold-induced thermogenesis	GO:0120162	9.86	STAT6 IL4R IL4
12	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.86	KITLG IL15 GHR
13	positive regulation of phagocytosis	GO:0050766	9.81	IL2RG IL2RB IL15
14	positive regulation of chemokine production	GO:0032722	9.81	TSLP IL7 IL4R
15	interleukin-9-mediated signaling pathway	GO:0038113	9.8	JAK3 JAK1 IL9 IL2RG
16	positive regulation of T cell differentiation	GO:0045582	9.8	IL7 IL4 IL2RA IL2 ADA
17	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.78	KITLG IL4 IL2
18	interleukin-21-mediated signaling pathway	GO:0038114	9.78	JAK3 JAK1 IL2RG IL21
19	positive regulation of interleukin-17 production	GO:0032740	9.77	IL21 IL2 IL15
20	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.76	STAT6 JAK3 GHR
21	tyrosine phosphorylation of STAT protein	GO:0007260	9.73	JAK3 IL21 IL15
22	interleukin-7-mediated signaling pathway	GO:0038111	9.73	TSLP JAK3 JAK1 IL7R IL7 IL2RG
23	positive regulation of tissue remodeling	GO:0034105	9.72	IL21 IL2 IL15
24	interleukin-15-mediated signaling pathway	GO:0035723	9.72	JAK3 JAK1 IL2RG IL2RB IL15
25	positive regulation of myoblast fusion	GO:1901741	9.7	IL4R IL4
26	regulation of regulatory T cell differentiation	GO:0045589	9.69	IL2RA IL2
27	regulation of T cell differentiation	GO:0045580	9.69	IL15 ADA
28	positive regulation of interleukin-13 production	GO:0032736	9.68	TSLP IL4
29	positive regulation of T cell differentiation in thymus	GO:0033089	9.68	IL7R ADA
30	positive regulation of interleukin-5 production	GO:0032754	9.68	TSLP IL9
31	positive regulation of cytokine-mediated signaling pathway	GO:0001961	9.67	TSLP IL7
32	negative regulation of T-helper 17 cell differentiation	GO:2000320	9.67	IL4 IL2
33	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.67	IL4 IL2
34	interleukin-4-mediated signaling pathway	GO:0035771	9.67	STAT6 JAK3 IL4R IL2RG
35	positive regulation of mast cell degranulation	GO:0043306	9.66	IL4R IL4
36	negative regulation of thymocyte apoptotic process	GO:0070244	9.66	JAK3 ADA
37	negative regulation of lymphocyte proliferation	GO:0050672	9.65	IL2RA IL2
38	activation of Janus kinase activity	GO:0042976	9.65	IL4 GHR
39	germinal center B cell differentiation	GO:0002314	9.65	IL21 ADA
40	positive regulation of STAT cascade	GO:1904894	9.64	TSLP IL7R
41	positive regulation of isotype switching to IgE isotypes	GO:0048295	9.62	STAT6 IL4
42	regulation of T cell homeostatic proliferation	GO:0046013	9.62	IL2RA IL2
43	negative regulation of T-helper 1 cell differentiation	GO:0045626	9.61	JAK3 IL4R
44	interleukin-2-mediated signaling pathway	GO:0038110	9.43	JAK3 JAK1 IL2RG IL2RB IL2RA IL2
45	cytokine-mediated signaling pathway	GO:0019221	9.36	STAT6 JAK3 JAK1 IL7 IL4R IL4

Molecular functions related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:0008083	9.77	KITLG IL9 IL7 IL4 IL2
2	protein phosphatase binding	GO:0019903	9.71	STAT6 JAK3 JAK1 GHR
3	cytokine receptor activity	GO:0004896	9.55	IL7R IL4R IL2RG IL2RB GHR
4	interleukin-2 receptor binding	GO:0005134	9.51	IL21 IL2
5	interleukin-2 binding	GO:0019976	9.5	IL2RG IL2RB IL2RA
6	interleukin-15 receptor activity	GO:0042010	9.49	IL2RG IL2RB
7	interleukin-7 receptor binding	GO:0005139	9.48	TSLP IL7
8	interleukin-7 receptor activity	GO:0004917	9.46	IL7R IL2RG
9	interleukin-4 receptor activity	GO:0004913	9.43	IL4R IL2RG
10	interleukin-2 receptor activity	GO:0004911	9.43	IL2RG IL2RB IL2RA
11	cytokine receptor binding	GO:0005126	9.35	IL9 IL7 IL4 IL21 IL15
12	cytokine activity	GO:0005125	9.23	TSLP KITLG IL9 IL7 IL4 IL21

Sources

Sources for Severe Combined Immunodeficiency, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Severe Combined Immunodeficiency, X-Linked (SCIDX1)

Aliases & Classifications for Severe Combined Immunodeficiency, X-Linked

MalaCards integrated aliases for Severe Combined Immunodeficiency, X-Linked:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Severe Combined Immunodeficiency, X-Linked

Related Diseases for Severe Combined Immunodeficiency, X-Linked

Diseases related to Severe Combined Immunodeficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, X-Linked:

Symptoms & Phenotypes for Severe Combined Immunodeficiency, X-Linked

Human phenotypes related to Severe Combined Immunodeficiency, X-Linked:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, X-Linked:

Drugs & Therapeutics for Severe Combined Immunodeficiency, X-Linked

Drugs for Severe Combined Immunodeficiency, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: x-linked combined immunodeficiency diseases

Genetic Tests for Severe Combined Immunodeficiency, X-Linked

Genetic tests related to Severe Combined Immunodeficiency, X-Linked:

Anatomical Context for Severe Combined Immunodeficiency, X-Linked

MalaCards organs/tissues related to Severe Combined Immunodeficiency, X-Linked:

Publications for Severe Combined Immunodeficiency, X-Linked

Articles related to Severe Combined Immunodeficiency, X-Linked:

Genes for Severe Combined Immunodeficiency, X-Linked

Genes/enhancers related to Severe Combined Immunodeficiency, X-Linked (1 elite genes):

Variations for Severe Combined Immunodeficiency, X-Linked

ClinVar genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

Expression for Severe Combined Immunodeficiency, X-Linked

Pathways for Severe Combined Immunodeficiency, X-Linked

Pathways related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

GO Terms for Severe Combined Immunodeficiency, X-Linked

Cellular components related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

Biological processes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

Molecular functions related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

Sources for Severe Combined Immunodeficiency, X-Linked