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SCIDX1
MCID: SVR066
MIFTS: 66

Severe Combined Immunodeficiency, X-Linked (SCIDX1)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Severe Combined Immunodeficiency, X-Linked

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

Name: Severe Combined Immunodeficiency, X-Linked 56 52 13 54
X-Linked Severe Combined Immunodeficiency 12 74 24 52 25 29 6 15
Scidx1 56 24 52 25 58 73
Xscid 56 12 52 25 73
X-Linked Combined Immunodeficiency Diseases 43 17 71
X-Linked Scid 24 52 25
X-Scid 24 52 25
Scidx 56 52 73
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 56 52
Gamma Chain Deficiency 12 17
Immunodeficiency 4 56 73
Scid, X-Linked 56 52
Imd4 56 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 52
T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency 58
Severe Combined Immunodeficiency T- B+, X-Linked 52
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 56
Il2rg Scid, T- B+ Nk- 25
Scid X-Linked 73
Scidx; Xscid 56
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:

56
Inheritance:
x-linked recessive

Miscellaneous:
death within first year of life


HPO:

31
severe combined immunodeficiency, x-linked:
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
Orphanet: 58  
Rare immunological diseases


Sources

Summaries for Severe Combined Immunodeficiency, X-Linked

About this section
NIH Rare Diseases : 52 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 chickenpox and precursor t-cell acute lymphoblastic leukemia. 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, b cells 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.

Genetics Home Reference : 25 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

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

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 chickenpox 30.5 IL4 IL2 ADA
2 precursor t-cell acute lymphoblastic leukemia 30.5 LMO2 IL7 IL2RG
3 adenosine deaminase deficiency 30.5 LMO2 JAK3 IL2RG ADA
4 t cell deficiency 30.4 IL7R IL7 IL2RG IL2 IL15
5 acute graft versus host disease 30.2 IL4 IL2RB IL2RA IL2
6 t-cell lymphoblastic leukemia/lymphoma 30.1 LMO2 IL9 IL2RB IL2RA IL2 ADA
7 lymphoma, hodgkin, classic 30.1 STAT6 IL9 IL2RA IL2
8 combined t cell and b cell immunodeficiency 30.0 LMO2 KITLG JAK3 JAK1 IL9 IL7R
9 omenn syndrome 29.7 JAK3 IL7R IL7 IL4 IL2RG IL2
10 lymphopenia 29.6 JAK3 IL7R IL7 IL4 IL2RG IL2RB
11 leukemia, acute lymphoblastic 29.4 LMO2 KITLG JAK3 JAK1 IL7R IL7
12 t-cell acute lymphoblastic leukemia 29.4 LMO2 JAK3 JAK1 IL7R IL7 IL4
13 autoimmune disease 29.3 JAK3 IL9 IL4 IL2RA IL21 IL2
14 common variable immunodeficiency 29.1 JAK3 IL7 IL4 IL2RB IL2RA IL21
15 leukemia, acute myeloid 29.0 LMO2 KITLG JAK3 JAK1 IL7R IL7
16 lymphoma, non-hodgkin, familial 28.7 KITLG IL9 IL7 IL4R IL4 IL2RB
17 immune deficiency disease 28.7 JAK3 IL7R IL7 IL4 IL2RG IL2RB
18 severe combined immunodeficiency 27.4 STAT6 LMO2 KITLG JAK3 JAK1 IL9
19 t-b- severe combined immunodeficiency 11.4
20 immunodeficiency, common variable, 4 11.3
21 1-chloro-2,4-dinitrobenzene allergic contact dermatitis 10.5 IL4 IL2
22 janus kinase-3 deficiency 10.5 JAK3 IL2RG
23 ceftazidime allergy 10.5 IL7 IL15
24 b-cell growth factor 10.4 IL7 IL4
25 granulomatous disease, chronic, x-linked 10.4 LMO2 IL2RG ADA
26 reticular dysgenesis 10.4 JAK3 IL2RG ADA
27 atopic keratoconjunctivitis 10.4 IL4 IL2
28 rheumatoid factor-negative polyarticular juvenile idiopathic arthritis 10.4 IL2RB IL2RA
29 microscopic colitis 10.4 IL4 IL2 IL15
30 agammaglobulinemia 10.3
31 virus associated hemophagocytic syndrome 10.3 IL4 IL2RB IL2
32 bare lymphocyte syndrome, type ii 10.3 JAK3 IL7R IL2RG
33 conjunctivitis 10.3 IL7 IL4 IL2
34 autoimmune disease of gastrointestinal tract 10.3 IL4 IL2 IL15
35 trichinosis 10.3 TSLP IL9 IL4
36 lymphoblastic leukemia, acute, with lymphomatous features 10.3 JAK3 JAK1 IL7R
37 thymic dysplasia 10.3
38 castleman disease 10.3 IL9 IL7 IL4
39 b-cell expansion with nfkb and t-cell anergy 10.3 IL2RB IL2RA IL2
40 hypersplenism 10.3 IL7R IL4 IL2RA
41 brucellosis 10.3 IL4 IL2 ADA
42 autoimmune disease of endocrine system 10.3 IL4 IL2RA IL2
43 x-linked recessive disease 10.3 LMO2 IL4 IL2RG IL2
44 t-cell large granular lymphocyte leukemia 10.3 IL2RB IL2RA IL2
45 visceral leishmaniasis 10.3 IL4 IL2 IL15
46 toxic oil syndrome 10.3 IL4 IL2RA
47 conjunctival disease 10.2 TSLP IL4 IL2
48 eczema herpeticum 10.2 TSLP IL7R IL4
49 mikulicz disease 10.2 IL4 IL21
50 milk allergy 10.2 STAT6 IL9 IL4

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



Diseases related to Severe Combined Immunodeficiency, X-Linked
Sources

Symptoms & Phenotypes for Severe Combined Immunodeficiency, X-Linked

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

58 31 (show all 41)
# 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 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
8 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
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 occasional (7.5%) 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 lymphopenia 58 Very frequent (99-80%)
30 hypoplasia of the thymus 31 HP:0000778
31 chronic diarrhea 31 HP:0002028
32 agammaglobulinemia 31 HP:0004432
33 severe combined immunodeficiency 31 HP:0004430
34 chronic mucocutaneous candidiasis 58 Occasional (29-5%)
35 abnormal immunoglobulin level 58 Very frequent (99-80%)
36 recurrent bacterial infections 58 Frequent (79-30%)
37 recurrent fungal infections 31 HP:0002841
38 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)
39 reduced proportion of naive t cells 58 Very frequent (99-80%)
40 recurrent cutaneous fungal infections 58 Occasional (29-5%)
41 recurrent bacterial meningitis 31 HP:0007274

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

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

Growth Other:
failure to thrive

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

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:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 ADA GHR IL15 IL2 IL21 IL2RA
2 immune system MP:0005387 10.43 ADA CFP GHR IL15 IL2 IL21
3 endocrine/exocrine gland MP:0005379 10.39 ADA GHR IL15 IL2 IL2RA IL2RB
4 growth/size/body region MP:0005378 10.31 ADA GHR IL15 IL2 IL2RA IL2RB
5 homeostasis/metabolism MP:0005376 10.3 ADA CFP GHR IL2 IL21 IL2RA
6 cellular MP:0005384 10.28 ADA GHR IL2 IL2RG IL4 IL4R
7 cardiovascular system MP:0005385 10.25 ADA CFP GHR IL15 IL2 IL2RA
8 digestive/alimentary MP:0005381 10.22 ADA IL2 IL2RA IL2RG IL4 IL4R
9 mortality/aging MP:0010768 10.22 ADA CFP GHR IL15 IL2 IL2RA
10 liver/biliary system MP:0005370 10.07 ADA GHR IL2 IL2RB IL4 IL4R
11 integument MP:0010771 10.06 GHR IL2RB IL4 IL4R JAK1 KITLG
12 reproductive system MP:0005389 9.81 ADA GHR IL15 IL2 IL2RB IL2RG
13 renal/urinary system MP:0005367 9.8 ADA GHR IL15 IL4 JAK1 LMO2
14 respiratory system MP:0005388 9.61 ADA IL2 IL2RA IL2RG IL4 IL4R
15 skeleton MP:0005390 9.28 ADA CFP GHR IL2RA IL2RG IL4
Sources

Drugs & Therapeutics for Severe Combined Immunodeficiency, X-Linked

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

(show all 37)
# 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 Alkylating Agents Phase 1, Phase 2
6 Immunologic Factors Phase 1, Phase 2
7 Insulin, Globin Zinc Phase 1, Phase 2
8 Hormones Phase 1, Phase 2
9 Mitogens Phase 1, Phase 2
10 insulin Phase 1, Phase 2
11
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
12
Mycophenolic acid Approved Phase 1 24280-93-1 446541
13
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
14 Antitubercular Agents Phase 1
15 Anti-Bacterial Agents Phase 1
16 Anti-Infective Agents Phase 1
17 Antifungal Agents Phase 1
18 Cyclosporins Phase 1
19 Dermatologic Agents Phase 1
20 Antibiotics, Antitubercular Phase 1
21 Antirheumatic Agents Phase 1
22 Calcineurin Inhibitors Phase 1
23
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
24
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
25
Sargramostim Approved, Investigational Early Phase 1 83869-56-1, 123774-72-1
26
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
27
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
28
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 5284616 6436030 46835353
29 Molgramostim Investigational Early Phase 1 99283-10-0
30 Antineoplastic Agents, Immunological Early Phase 1
31 Adjuvants, Immunologic Early Phase 1
32 Antiviral Agents Early Phase 1
33 Antimetabolites Early Phase 1
34 Anti-Arrhythmia Agents
35 Vasodilator Agents
36 Neurotransmitter Agents
37 Analgesics

Interventional clinical trials:

(show all 24)
# 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) Recruiting 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 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
6 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
7 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
8 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
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 Allogeneic and Matched Unrelated Donor Stem Cell Transplantation for Congenital Immunodeficiencies or Patients With Autoinflammatory/Immunodysregulatory Conditions: Busulfan-Based Conditioning With Campath- 1H or h-ATG, Radiation, and Sirolimus Completed NCT00426517 Early Phase 1 Fludarabine;Total Body Irradiation, Busulfan, Campath-1H, or h-ATG, Fludarabine;Sirolimus or equivalent based on response;Granulocyte Colony Stimulating Factor (G-CSF)
17 A Long-Term Follow-Up Study in Subjects With Sever Hemophilia B Who Received Adeno-Associated Viral Vectors Expressing Human Factor IX Completed NCT00515710
18 Gene Therapy for X Linked Severe Combined Immunodeficiency Recruiting NCT04286815
19 Screening and Baseline Assessment of Patients With Abnormalities of Immune Function Recruiting NCT00128973
20 A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children With SCID Disorders (RDCRN PIDTC-6901) Recruiting NCT01186913
21 Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells,Mononuclear Cells and Granulocytes Recruiting NCT00001405
22 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
23 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
24 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

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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

About this section

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

40
T Cells, B Cells, Nk Cells, Bone, Bone Marrow, Skin, Lymph Node
Sources

Publications for Severe Combined Immunodeficiency, X-Linked

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Articles related to Severe Combined Immunodeficiency, X-Linked:

(show top 50) (show all 462)
# Title Authors PMID Year
1
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. 24 61 54 6 56
8462096 1993
2
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. 61 56 6 24
8900089 1996
3
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. 56 6 54 61
18728247 2008
4
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. 61 6 56
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. 54 61 6 24
7557965 1995
6
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. 54 61 24 6
8401490 1993
7
Efficacy of gene therapy for X-linked severe combined immunodeficiency. 56 24 61
20660403 2010
8
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 56 24 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. 54 24 6
8781427 1996
10
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. 24 56 61
2332505 1990
11
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. 54 61 6
18941169 2008
12
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 56 24
10021471 1999
13
IL2RGbase: a database of gamma c-chain defects causing human X-SCID. 6 24
8961626 1996
14
Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. 54 61 6
8557662 1996
15
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 6 54 61
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 6 61
7860773 1995
17
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. 61 56 54
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 56
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. 56 61 54
8070818 1994
20
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. 24 56
8410508 1993
21
Failure of SCID-X1 gene therapy in older patients. 56 61
15687233 2005
22
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. 56 61
14564000 2003
23
X-Linked Severe Combined Immunodeficiency 61 6
20301584 2003
24
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. 56 61
12529469 2003
25
A critical role for IL-21 in regulating immunoglobulin production. 56 61
12446913 2002
26
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. 61 56
11961146 2002
27
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. 24 54 61
11426455 2001
28
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. 61 24 54
10794430 2000
29
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. 61 54 24
9150730 1997
30
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 24 61 54
9058718 1997
31
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. 24 54 61
9049783 1997
32
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. 56 61
8943162 1996
33
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. 54 24 61
7883965 1995
34
Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. 61 56
8093460 1993
35
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. 56 61
1395081 1992
36
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. 56 61
1550118 1992
37
Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes. 56 61
1988230 1991
38
Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male. 56 61
2606471 1989
39
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. 61 56
2565084 1989
40
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. 56 61
2895261 1988
41
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. 61 56
2883199 1987
42
Lymphocyte subpopulations in X-linked severe combined immunodeficiency (SCID). Evidence against a stem cell defect. Transformation response to calcium inophore A23187. 61 56
360838 1978
43
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. 61 24
26407811 2015
44
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. 61 24
25295500 2014
45
Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. 24 61
25042067 2014
46
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. 61 24
22105576 2013
47
Gene therapy: therapeutic gene causing lymphoma. 56
16641981 2006
48
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. 56
16601912 2006
49
Highly efficient endogenous human gene correction using designed zinc-finger nucleases. 56
15806097 2005
50
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. 56
15032591 2004
Sources

Variations for Severe Combined Immunodeficiency, X-Linked

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

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RG NM_000206.2(IL2RG):c.421C>T (p.Gln141Ter)SNV Pathogenic 449330 rs1556330713 X:70330387-70330387 X:71110537-71110537
2 IL2RG NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter)SNV Pathogenic 463384 rs1556330234 X:70329115-70329115 X:71109265-71109265
3 IL2RG NM_000206.2(IL2RG):c.903_910del (p.Glu302fs)deletion Pathogenic 463387 rs1556329779 X:70328141-70328148 X:71108291-71108298
4 IL2RG NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter)SNV Pathogenic 463379 rs1556330552 X:70330038-70330038 X:71110188-71110188
5 IL2RG NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter)SNV Pathogenic 463382 rs1556330286 X:70329233-70329233 X:71109383-71109383
6 IL2RG NC_000023.11:g.(?_71108277)_(71108346_?)deldeletion Pathogenic 463377 X:70328127-70328196 X:71108277-71108346
7 IL2RG NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter)SNV Pathogenic 463378 rs1556331272 X:70331290-70331290 X:71111440-71111440
8 IL2RG NM_000206.2(IL2RG):c.548del (p.Leu183fs)deletion Pathogenic 532190 rs1556330562 X:70330052-70330052 X:71110202-71110202
9 IL2RG NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter)SNV Pathogenic 532189 rs1556330568 X:70330078-70330078 X:71110228-71110228
10 IL2RG NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter)SNV Pathogenic 569485 rs1569480047 X:70330538-70330538 X:71110688-71110688
11 IL2RG NM_000206.2(IL2RG):c.87del (p.Asn31fs)deletion Pathogenic 619010 X:70331303-70331303 X:71111453-71111453
12 IL2RG NM_000206.2(IL2RG):c.455T>G (p.Val152Gly)SNV Pathogenic 624584 rs193922348 X:70330145-70330145 X:71110295-71110295
13 IL2RG NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs)short repeat Pathogenic 658867 X:70327737-70327738 X:71107887-71107888
14 IL2RG NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter)SNV Pathogenic 649486 X:70330378-70330378 X:71110528-71110528
15 IL2RG NM_000206.2(IL2RG):c.594+2_594+3delshort repeat Pathogenic 643411 X:70330003-70330004 X:71110153-71110154
16 IL2RG NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)insertion Pathogenic 817464 X:70330790-70330791 X:71110940-71110941
17 IL2RG NM_000206.3(IL2RG):c.294del (p.Val99fs)deletion Pathogenic 858175 X:70330514-70330514 X:71110664-71110664
18 IL2RG NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter)SNV Pathogenic 10016 rs137852507 X:70330453-70330453 X:71110603-71110603
19 IL2RG IL2RG, ARG267TERSNV Pathogenic 10017
20 IL2RG NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter)SNV Pathogenic 10018 rs137852509 X:70328128-70328128 X:71108278-71108278
21 IL2RG NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter)SNV Pathogenic 10019 rs111033619 X:70330830-70330830 X:71110980-71110980
22 IL2RG NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp)SNV Pathogenic 10020 rs111033620 X:70330467-70330467 X:71110617-71110617
23 IL2RG NM_000206.2(IL2RG):c.454+1G>ASNV Pathogenic 10021 rs1569480018 X:70330353-70330353 X:71110503-71110503
24 IL2RG NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn)SNV Pathogenic 10022 rs111033621 X:70330142-70330142 X:71110292-71110292
25 IL2RG NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln)SNV Pathogenic 10023 rs137852510 X:70328173-70328173 X:71108323-71108323
26 IL2RG NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup)duplication Pathogenic 10024 rs587776729 X:70329123-70329124 X:71109273-71109274
27 IL2RG NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg)SNV Pathogenic 10025 rs111033622 X:70330465-70330465 X:71110615-71110615
28 IL2RG NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln)SNV Pathogenic 10026 rs111033617 X:70328449-70328449 X:71108599-71108599
29 IL2RG NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro)SNV Pathogenic 10028 rs137852511 X:70330356-70330356 X:71110506-71110506
30 IL2RG NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter)SNV Pathogenic 36389 rs137852508 X:70328186-70328186 X:71108336-71108336
31 IL2RG NM_000206.2(IL2RG):c.677G>A (p.Arg226His)SNV Pathogenic 225196 rs869320660 X:70329158-70329158 X:71109308-71109308
32 IL2RG NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys)SNV Pathogenic 225195 rs869320659 X:70329159-70329159 X:71109309-71109309
33 IL2RG NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp)SNV Pathogenic 225194 rs869320658 X:70329165-70329165 X:71109315-71109315
34 IL2RG NM_000206.2(IL2RG):c.270-15A>GSNV Pathogenic 265194 rs886039387 X:70330553-70330553 X:71110703-71110703
35 IL2RG NM_000206.2(IL2RG):c.758-1G>ASNV Pathogenic 280937 rs886042051 X:70328546-70328546 X:71108696-71108696
36 IL2RG NM_000206.2(IL2RG):c.455T>C (p.Val152Ala)SNV Pathogenic/Likely pathogenic 36386 rs193922348 X:70330145-70330145 X:71110295-71110295
37 IL2RG NM_000206.2(IL2RG):c.270-1G>TSNV Pathogenic/Likely pathogenic 36384 rs193922346 X:70330539-70330539 X:71110689-71110689
38 IL2RG NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys)SNV Pathogenic/Likely pathogenic 379561 rs1057520644 X:70330814-70330814 X:71110964-71110964
39 IL2RG NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter)SNV Pathogenic/Likely pathogenic 418656 rs1064793347 X:70327714-70327714 X:71107864-71107864
40 IL2RG NM_000206.2(IL2RG):c.855-1G>ASNV Likely pathogenic 463385 rs1556329822 X:70328197-70328197 X:71108347-71108347
41 IL2RG NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr)SNV Likely pathogenic 463381 rs1556330755 X:70330464-70330464 X:71110614-71110614
42 IL2RG NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter)SNV Likely pathogenic 633276 rs1569479994 X:70330135-70330135 X:71110285-71110285
43 IL2RG NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter)SNV Likely pathogenic 633275 rs1569480082 X:70330835-70330835 X:71110985-71110985
44 IL2RG NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys)SNV Likely pathogenic 36385 rs193922347 X:70330494-70330494 X:71110644-71110644
45 IL2RG NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser)SNV Likely pathogenic 36387 rs193922349 X:70329173-70329173 X:71109323-71109323
46 IL2RG NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter)SNV Likely pathogenic 36388 rs193922350 X:70329125-70329125 X:71109275-71109275
47 IL2RG NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro)SNV Likely pathogenic 242905 rs879253742 X:70331343-70331343 X:71111493-71111493
48 IL2RG NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)SNV Likely pathogenic 804024 X:70330516-70330516 X:71110666-71110666
49 IL2RG NM_000206.2(IL2RG):c.*133G>ASNV Uncertain significance 368616 rs560555283 X:70327453-70327453 X:71107603-71107603
50 IL2RG NM_000206.2(IL2RG):c.595-7C>TSNV Uncertain significance 368618 rs1057515981 X:70329247-70329247 X:71109397-71109397

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
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

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

Pathways for Severe Combined Immunodeficiency, X-Linked

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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
 14.13 STAT6 KITLG JAK3 JAK1 IL9 IL7R
2
ERK Signaling 63
Show member pathways
 13.91 STAT6 KITLG JAK3 JAK1 IL9 IL7R
3
PEDF Induced Signaling 63
Show member pathways
 13.78 TSLP JAK3 IL9 IL7R IL7 IL4R
4
TGF-Beta Pathway 63
Show member pathways
 13.64 STAT6 KITLG JAK3 JAK1 IL9 IL7R
5
Akt Signaling 63
Show member pathways
 13.45 STAT6 KITLG JAK3 JAK1 IL9 IL7R
6
PAK Pathway 63
Show member pathways
 13.42 KITLG IL9 IL7R IL7 IL4R IL4
7
Cytokine Signaling in Immune system 65
Show member pathways
 13.39 STAT6 KITLG JAK3 JAK1 IL9 IL7R
8
IL-2 Pathway 63
Show member pathways
 13.36 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
9
p70S6K Signaling 63
Show member pathways
 13.12 KITLG JAK1 IL9 IL4R IL4 IL2RA
10
PI3K-Akt signaling pathway 36
Show member pathways
 13.09 KITLG JAK3 JAK1 IL7R IL7 IL4R
11
Allograft rejection 1 36
Show member pathways
 12.92 IL9 IL4 IL2RA IL21 IL2 IL15
12
Measles 36
Show member pathways
 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
 12.75 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
15
NF-kappaB Signaling 4
12.73 STAT6 KITLG JAK3 JAK1 IL4 IL2RB
16
Development IGF-1 receptor signaling 22
Show member pathways
 12.55 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
17
Human T-cell leukemia virus 1 infection 36
12.53 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
18
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.48 STAT6 JAK3 JAK1 IL9 IL7R IL7
19
Autophagy Pathway 66
12.44 IL7R IL4R IL2RB IL2RA IL21 IL15
20
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.43 KITLG JAK1 IL9 IL4 IL2RA IL2
21
MAPK Signaling: Mitogens 64
Show member pathways
 12.4 JAK1 IL7R IL4R IL2RB IL2RA IL21
22
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.39 IL2RG IL2RB IL2RA IL2
23
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.34 IL2RG IL2RB IL2RA IL2
24
G beta-gamma signalling through PI3Kgamma 65
Show member pathways
 12.33 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
25
IL-2 Signaling Pathway 1
Show member pathways
 12.27 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
26
Jak Stat Signaling Pathway 66
Show member pathways
 12.23 STAT6 JAK3 JAK1 IL9 IL7R IL7
27
Interleukin-4 and 13 signaling 65
12.19 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
28
IL12-mediated signaling events 1
Show member pathways
 12.18 STAT6 IL4 IL2RG IL2RB IL2RA IL2
29
Hematopoietic Stem Cells and Lineage-specific Markers 64
12.16 KITLG IL7R IL7 IL4 IL2RB IL2RA
30
Hematopoietic cell lineage 36
12.11 KITLG IL7R IL7 IL4R IL4 IL2RA
31
Th17 Differentiation 64
Show member pathways
 12.06 JAK3 JAK1 IL4R IL4 IL2RG IL21
32
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.96 JAK3 JAK1 IL2RG IL21
33
IL27-mediated signaling events 1
Show member pathways
 11.92 JAK1 IL21 IL2
34
Innate Lymphoid Cells Differentiation 64
11.92 TSLP IL9 IL7R IL7 IL4 IL2RB
35
JAK-STAT signaling pathway 36
Show member pathways
 11.92 TSLP STAT6 JAK3 JAK1 IL9 IL7R
36
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.91 JAK3 JAK1 IL4 IL2RG IL2RB IL2RA
37
IL4-mediated signaling events 1
11.86 STAT6 JAK3 JAK1 IL4R IL4 IL2RG
38
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.78 IL2RG IL2RB IL2RA IL2
39
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.77 IL4 IL2RA IL2
40
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.73 TSLP STAT6 JAK1 IL7R IL2RA
41
Th2 Differentiation 64
11.68 STAT6 JAK3 JAK1 IL9 IL4R IL4
42
IL-7 Signaling Pathway 1
Show member pathways
 11.64 JAK3 JAK1 IL9 IL7R IL7 IL2RG
43
IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 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
 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
 11.41 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
Sources

GO Terms for Severe Combined Immunodeficiency, X-Linked

About this section

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 42)
# 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 9.85 STAT6 IL4R IL4
12 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.85 KITLG IL15 GHR
13 positive regulation of phagocytosis GO:0050766 9.81 IL2RG IL2RB IL15
14 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.8 KITLG IL4 IL2
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 interleukin-21-mediated signaling pathway GO:0038114 9.78 JAK3 JAK1 IL2RG IL21
18 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.77 STAT6 JAK3 GHR
19 positive regulation of interleukin-17 production GO:0032740 9.76 IL21 IL2 IL15
20 tyrosine phosphorylation of STAT protein GO:0007260 9.73 JAK3 IL21 IL15
21 interleukin-7-mediated signaling pathway GO:0038111 9.73 TSLP JAK3 JAK1 IL7R IL7 IL2RG
22 positive regulation of tissue remodeling GO:0034105 9.72 IL21 IL2 IL15
23 interleukin-15-mediated signaling pathway GO:0035723 9.72 JAK3 JAK1 IL2RG IL2RB IL15
24 lymph node development GO:0048535 9.69 IL7R IL15
25 regulation of regulatory T cell differentiation GO:0045589 9.68 IL2RA IL2
26 regulation of T cell differentiation GO:0045580 9.68 IL15 ADA
27 positive regulation of mast cell degranulation GO:0043306 9.67 IL4R IL4
28 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 IL4 IL2
29 positive regulation of T cell differentiation in thymus GO:0033089 9.67 IL7R ADA
30 interleukin-4-mediated signaling pathway GO:0035771 9.67 STAT6 JAK3 IL4R IL2RG
31 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.66 TSLP IL7
32 negative regulation of T-helper 17 cell differentiation GO:2000320 9.66 IL4 IL2
33 positive regulation of interleukin-13 production GO:0032736 9.65 TSLP IL4
34 negative regulation of thymocyte apoptotic process GO:0070244 9.65 JAK3 ADA
35 negative regulation of lymphocyte proliferation GO:0050672 9.65 IL2RA IL2
36 activation of Janus kinase activity GO:0042976 9.64 IL4 GHR
37 positive regulation of STAT cascade GO:1904894 9.64 TSLP IL7R
38 positive regulation of isotype switching to IgE isotypes GO:0048295 9.62 STAT6 IL4
39 regulation of T cell homeostatic proliferation GO:0046013 9.61 IL2RA IL2
40 negative regulation of T-helper 1 cell differentiation GO:0045626 9.61 JAK3 IL4R
41 interleukin-2-mediated signaling pathway GO:0038110 9.43 JAK3 JAK1 IL2RG IL2RB IL2RA IL2
42 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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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