SCIDX1
MCID: SVR066
MIFTS: 66

Severe Combined Immunodeficiency, X-Linked (SCIDX1)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

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:

Orphanet: 58  
Rare immunological diseases


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

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:



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:

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

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
1
Adenosine Approved, Investigational Phase 2, Phase 3 58-61-7 60961
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
4 Immunosuppressive Agents Phase 1, Phase 2
5 Immunologic Factors Phase 1, Phase 2
6 Alkylating Agents Phase 1, Phase 2
7 Mitogens Phase 1, Phase 2
8 Insulin, Globin Zinc Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 insulin Phase 1, Phase 2
11
Mycophenolic acid Approved Phase 1 24280-93-1 446541
12
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
13
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
14 Antibiotics, Antitubercular Phase 1
15 Antifungal Agents Phase 1
16 Antitubercular Agents Phase 1
17 Anti-Infective Agents Phase 1
18 Anti-Bacterial Agents Phase 1
19 Antirheumatic Agents Phase 1
20 Cyclosporins Phase 1
21 Dermatologic Agents Phase 1
22 Calcineurin Inhibitors Phase 1
23 Neurotransmitter Agents
24 Analgesics
25 Anti-Arrhythmia Agents
26 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

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

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

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
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
8900089 1996
3
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. 54 61 6 57
18728247 2008
4
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. 6 57 61
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
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
8401490 1993
7
Efficacy of gene therapy for X-linked severe combined immunodeficiency. 57 25 61
20660403 2010
8
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 25 57 54
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
8781427 1996
10
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. 57 25 61
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
18941169 2008
12
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 57 25
10021471 1999
13
IL2RGbase: a database of gamma c-chain defects causing human X-SCID. 6 25
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
8557662 1996
15
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 61 54 6
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
7860773 1995
17
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. 57 54 61
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
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
8070818 1994
20
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. 25 57
8410508 1993
21
Failure of SCID-X1 gene therapy in older patients. 61 57
15687233 2005
22
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. 61 57
14564000 2003
23
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. 61 57
12529469 2003
24
A critical role for IL-21 in regulating immunoglobulin production. 57 61
12446913 2002
25
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. 57 61
11961146 2002
26
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. 54 25 61
11426455 2001
27
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. 61 54 25
10794430 2000
28
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. 25 54 61
9150730 1997
29
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 61 54 25
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
9049783 1997
31
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. 61 57
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
7883965 1995
33
Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. 57 61
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
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
1550118 1992
36
Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes. 61 57
1988230 1991
37
Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male. 57 61
2606471 1989
38
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. 61 57
2565084 1989
39
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. 61 57
2895261 1988
40
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. 61 57
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
360838 1978
42
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. 25 61
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
25042067 2014
44
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. 61 25
25295500 2014
45
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. 25 61
22105576 2013
46
Gene therapy: therapeutic gene causing lymphoma. 57
16641981 2006
47
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. 57
16601912 2006
48
Highly efficient endogenous human gene correction using designed zinc-finger nucleases. 57
15806097 2005
49
Gene therapy insertional mutagenesis insights. 57
14726584 2004
50
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. 57
15032591 2004

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

Expression for Severe Combined Immunodeficiency, X-Linked

Search GEO for disease gene expression data 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:

(show top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 STAT6 KITLG JAK3 JAK1 IL9 IL7R
2
Show member pathways
13.91 STAT6 KITLG JAK3 JAK1 IL9 IL7R
3
Show member pathways
13.78 TSLP JAK3 IL9 IL7R IL7 IL4R
4
Show member pathways
13.64 STAT6 KITLG JAK3 JAK1 IL9 IL7R
5
Show member pathways
13.45 STAT6 KITLG JAK3 JAK1 IL9 IL7R
6
Show member pathways
13.42 KITLG IL9 IL7R IL7 IL4R IL4
7
Show member pathways
13.39 STAT6 KITLG JAK3 JAK1 IL9 IL7R
8
Show member pathways
13.36 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
9
Show member pathways
13.12 KITLG JAK1 IL9 IL4R IL4 IL2RA
10
Show member pathways
13.09 KITLG JAK3 JAK1 IL7R IL7 IL4R
11
Show member pathways
12.92 IL9 IL4 IL2RA IL21 IL2 IL15
12
Show member pathways
12.89 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
13 12.79 STAT6 KITLG JAK3 JAK1 IL7R IL7
14
Show member pathways
12.75 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
15 12.73 STAT6 KITLG JAK3 JAK1 IL4 IL2RB
16
Show member pathways
12.68 STAT6 JAK3 JAK1 IL9 IL7R IL7
17
Show member pathways
12.55 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
18 12.53 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
19 12.44 IL7R IL4R IL2RB IL2RA IL21 IL15
20
Show member pathways
12.43 KITLG JAK1 IL9 IL4 IL2RA IL2
21
Show member pathways
12.4 IL2RG IL2RB IL2RA IL2
22
Show member pathways
12.4 JAK1 IL7R IL4R IL2RB IL2RA IL21
23
Show member pathways
12.35 IL2RG IL2RB IL2RA IL2
24
Show member pathways
12.33 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
25
Show member pathways
12.27 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
26 12.19 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
27
Show member pathways
12.18 STAT6 IL4 IL2RG IL2RB IL2RA IL2
28 12.16 KITLG IL7R IL7 IL4 IL2RB IL2RA
29 12.11 KITLG IL7R IL7 IL4R IL4 IL2RA
30
Show member pathways
12.06 JAK3 JAK1 IL4R IL4 IL2RG IL21
31
Show member pathways
11.96 JAK3 JAK1 IL2RG IL21
32 11.92 TSLP IL9 IL7R IL7 IL4 IL2RB
33
Show member pathways
11.92 TSLP STAT6 JAK3 JAK1 IL9 IL7R
34
Show member pathways
11.91 JAK3 JAK1 IL4 IL2RG IL2RB IL2RA
35 11.86 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
36
Show member pathways
11.78 IL2RG IL2RB IL2RA IL2
37
Show member pathways
11.77 IL4 IL2RA IL2
38 11.73 TSLP STAT6 JAK1 IL7R IL2RA
39 11.71 IL4 IL2RA IL21
40 11.68 STAT6 JAK3 JAK1 IL9 IL4R IL4
41 11.66 STAT6 JAK3 JAK1 IL9 IL7R IL7
42
Show member pathways
11.64 JAK3 JAK1 IL9 IL7R IL7 IL2RG
43
Show member pathways
11.58 IL2RG IL2RB IL2RA IL2 IL15
44 11.57 JAK3 IL7R IL2RG ADA
45 11.54 IL4R IL4 IL2RG IL2RB IL2RA IL2
46
Show member pathways
11.51 STAT6 JAK3 JAK1
47 11.51 TSLP IL9 IL7 IL4 IL15
48 11.45 IL7 IL4 IL2 IL15
49 11.44 JAK3 JAK1 IL7R IL7 IL2RG
50
Show member pathways
11.41 JAK3 JAK1 IL2RG IL2RB IL2RA IL2

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 for Severe Combined Immunodeficiency, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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