MCID: SVR004
MIFTS: 68

Severe Combined Immunodeficiency malady

Rare diseases, Immune diseases categories

Summaries for Severe Combined Immunodeficiency

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NIH Rare Diseases:41 Severe combined immunodeficiencies (scid) are inherited immune system disorders characterized by abnormalities with responses of both t cells and b cells (specific types of white blood cells needed for immune system function). common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). scid may be caused by mutations in any of several genes and can be inherited in an x-linked recessive (most commonly) or autosomal recessive manner. the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. without treatment, affected children rarely live past the age of two. last updated: 5/27/2014

MalaCards based summary: Severe Combined Immunodeficiency, also known as severe combined immunodeficiency disease, is related to omenn syndrome and chronic granulomatous disease, and has symptoms including malabsorption, recurrent respiratory infections and abnormality of temperature regulation. An important gene associated with Severe Combined Immunodeficiency is IL2RG (interleukin 2 receptor, gamma), and among its related pathways are IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types and C-MYB transcription factor network. The drug pegademase bovine and the compounds busulfan and denileukin diftitox have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Disease Ontology:9 A combined t cell and b cell immunodeficiency that is caused by a defect in several genes encoding for b and t lymphocytes resulting in individuals with non-functional immune systems.

Wikipedia:63 Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann?Riniker syndrome, severe... more...

Aliases & Classifications for Severe Combined Immunodeficiency

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Severe Combined Immunodeficiency, Aliases & Descriptions:

Name: Severe Combined Immunodeficiency 30 9 41 11 43 60
Severe Combined Immunodeficiency Disease 9 22
Scid 9 41
 
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 60
Combined T and B Cell Inborn Immunodeficiency 9
Bubble Boy Disease 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Immune diseases


External Ids:

Disease Ontology9 DOID:627
MeSH33 D016511
SNOMED-CT55 190994004, 31323000
NCIt38 C3472

Related Diseases for Severe Combined Immunodeficiency

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

(show top 50)    (show all 280)
idRelated DiseaseScoreTop Affiliating Genes
1omenn syndrome30.9DCLRE1C, RAG2, RAG1
2chronic granulomatous disease30.6JAK3, ADA
3severe combined immunodeficiency, x-linked30.4IL2, IL2RG, JAK3, ADA, IL7R
4anaplastic large cell lymphoma30.1ZAP70, JAK3
5rheumatoid arthritis30.1ADA, IL2, ZAP70, JAK3
6chronic lymphocytic leukemia30.0IL2, ADA, ZAP70
7lymphopenia30.0JAK3, ZAP70, IL2RG, ADA, IL2, IL7R
8inflammatory bowel disease29.9RAG2, IL2
9melanoma29.6ADA, IL2, ZAP70, IL2RG, IL7R
10leukemia29.6IL2, IL7R, JAK3, RAG1, RAG2, ZAP70
11t-cell leukemia29.3IL2, ZAP70, RAG1, ADA, RAG2
12adenosine deaminase deficiency11.0
13gamma chain deficiency10.9
14hematopoietic stem cell transplantation10.7
15achondroplasia and severe combined immunodeficiency10.7
16obesity10.6
17zap70-related severe combined immunodeficiency10.6
18severe combined immunodeficiency, athabascan type10.6
19prostatitis10.5
20severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.5
21thyroiditis10.5
22lung cancer10.5
23severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
24severe combined immunodeficiency, b cell-negative10.5
25severe combined immunodeficiency due to ikk2 deficiency10.5
26reticular dysgenesis10.5
27severe combined immunodeficiency due to ada deficiency10.5
28severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.4
29hepatitis10.4
30myeloma10.4
31severe combined immunodeficiency due to lck deficiency10.4
32severe combined immunodeficiency due to coro1a deficiency10.4
33prostate cancer10.4
34arthritis10.4
35intestinal atresia10.4
36pneumonia10.4
37severe combined immunodeficiency, atypical10.4
38zap-70 deficiency10.4
39t-b+ severe combined immunodeficiency due to il-7ralpha deficiency10.4
40t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta10.4
41t-b+ severe combined immunodeficiency due to cd45 deficiency10.4
42severe combined immunodeficiency due to complete rag1/2 deficiency10.4
43severe combined immunodeficiency due to dna-pkcs deficiency10.4
44severe combined immunodeficiency due to card11 deficiency10.4
45t-b+ severe combined immunodeficiency due to jak3 deficiency10.4
46digeorge syndrome10.3
47multiple myeloma10.3
48mhc class ii deficiency10.3
49agammaglobulinemia10.3
50colitis10.3

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency:



Diseases related to severe combined immunodeficiency

Symptoms for Severe Combined Immunodeficiency

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HPO human phenotypes related to Severe Combined Immunodeficiency:

(show all 16)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 recurrent respiratory infections hallmark (90%) HP:0002205
3 abnormality of temperature regulation hallmark (90%) HP:0004370
4 severe combined immunodeficiency hallmark (90%) HP:0004430
5 sepsis hallmark (90%) HP:0100806
6 skin rash typical (50%) HP:0000988
7 alopecia typical (50%) HP:0001596
8 lymphopenia typical (50%) HP:0001888
9 abnormality of the tonsils typical (50%) HP:0100765
10 recurrent urinary tract infections occasional (7.5%) HP:0000010
11 abnormality of the teeth occasional (7.5%) HP:0000164
12 microcephaly occasional (7.5%) HP:0000252
13 otitis media occasional (7.5%) HP:0000388
14 sensorineural hearing impairment occasional (7.5%) HP:0000407
15 splenomegaly occasional (7.5%) HP:0001744
16 hepatomegaly occasional (7.5%) HP:0002240

Drugs & Therapeutics for Severe Combined Immunodeficiency

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Drug clinical trials:

Search ClinicalTrials for Severe Combined Immunodeficiency

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Combined Immunodeficiency cell therapies at LifeMap Discovery.

Genetic Tests for Severe Combined Immunodeficiency

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Genetic tests related to Severe Combined Immunodeficiency:

id Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease22

Anatomical Context for Severe Combined Immunodeficiency

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MalaCards organs/tissues related to Severe Combined Immunodeficiency:

31
T cells, B cells, Bone, Bone marrow, Skin, Lung, Thyroid, Prostate, Liver, Testes, Tonsil, Monocytes, Colon, Myeloid, Breast, Neutrophil, Brain, Small intestine, Adipocyte, Pancreas, Nk cells, Endothelial, Fetal liver

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Severe Combined Immunodeficiency:
id TissueAnatomical CompartmentCell Relevance
1 BloodPeripheral BloodB-cell Progenitor Cells Potential therapeutic candidate, affected by disease
2 BloodHematopoietic Bone MarrowHematopoietic Stem Cells Potential therapeutic candidate
3 BloodPeripheral BloodNatural Killer Cells Potential therapeutic candidate, affected by disease

Animal Models for Severe Combined Immunodeficiency or affiliated genes

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MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4RAG2, RAG1, IL2, ADA
2MP:00020068.2RAG1, IL2RG, IL2, NHEJ1, RAG2
3MP:00053818.0RAG2, RAG1, IL2RG, IL2, JAK3
4MP:00053908.0RAG2, RAG1, IL2RG, ADA, ZAP70
5MP:00028737.8ADA, IL2RG, IL7R, RAG1, RAG2, ZAP70
6MP:00053887.7RAG2, IL2, IL2RG, RAG1, ZAP70, ADA
7MP:00053767.4RAG2, RAG1, IL2RG, IL2, ADA, NHEJ1
8MP:00053846.8IL2RG, RAG1, RAG2, ADA, IL7R, JAK3
9MP:00053975.7RAG1, ZAP70, RAG2, NHEJ1, DCLRE1C, IL2RG
10MP:00053875.7IL7R, ZAP70, CD3D, IL2RG, ADA, JAK3

Publications for Severe Combined Immunodeficiency

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Articles related to Severe Combined Immunodeficiency:

(show top 50)    (show all 763)
idTitleAuthorsYear
1
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. (25618583)
2015
2
Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications. (25011356)
2014
3
A Perspective on IL-7RI+ Deficient T-B+NK and Severe Combined Immunodeficiency. (25191848)
2014
4
Successful treatment of systemic cytomegalovirus infection in severe combined immunodeficiency using allogeneic bone marrow transplantation followed by adoptive immunotherapy. (25011361)
2014
5
Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency. (25159470)
2014
6
Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization. (23790094)
2013
7
Newborn screening for severe combined immunodeficiency: an opportunity for intervention. (23897312)
2013
8
Combination therapy with epigallocatechin-3-gallate and doxorubicin in human prostate tumor modeling studies: inhibition of metastatic tumor growth in severe combined immunodeficiency mice. (20971741)
2010
9
Left ventricular aneurysm in a child with severe combined immunodeficiency syndrome. (19853138)
2009
10
The evolution of gene therapy in X-linked severe combined immunodeficiency. (19492655)
2009
11
Delivery of a baby with severe combined immunodeficiency at 31 weeks gestation following an extreme preterm prelabour spontaneous rupture of the membranes: a case report. (19946536)
2009
12
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. (24198507)
2009
13
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. (17512212)
2007
14
Matched unrelated bone marrow transplant for severe combined immunodeficiency. (17917025)
2007
15
Identification of long-term repopulating potential of human cord blood-derived CD34-flt3- severe combined immunodeficiency-repopulating cells by intra-bone marrow injection. (17303816)
2007
16
Establishment in severe combined immunodeficiency mice of subrenal capsule xenografts and transplantable tumor lines from a variety of primary human lung cancers: potential models for studying tumor progression-related changes. (16818704)
2006
17
Usefulness of severe combined immunodeficiency (scid) and inbred mice for studies of cysticercosis and echinococcosis. (16338168)
2006
18
Inhibitory anti-FLT3 antibodies are capable of mediating antibody-dependent cell-mediated cytotoxicity and reducing engraftment of acute myelogenous leukemia blasts in nonobese diabetic/severe combined immunodeficient mice. (15735040)
2005
19
In vitro cultured islet-derived progenitor cells of human origin express human albumin in severe combined immunodeficiency mouse liver in vivo. (15579634)
2004
20
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
21
Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency. (14985489)
2004
22
An in vivo model of autoimmune post-coxsackievirus B3 myocarditis in severe combined immunodeficiency mouse. (14613869)
2003
23
Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome. (12621496)
2003
24
Effect of isocaloric low-fat diet on human LAPC-4 prostate cancer xenografts in severe combined immunodeficient mice and the insulin-like growth factor axis. (12855654)
2003
25
Overexpression of urokinase-type plasminogen activator in human gastric cancer cell line (AGS) induces tumorigenicity in severe combined immunodeficient mice. (11856478)
2002
26
Gene therapy using a simian virus 40-derived vector inhibits the development of in vivo human immunodeficiency virus type 1 infection of severe combined immunodeficiency mice implanted with human fetal thymic and liver tissue. (11992277)
2002
27
Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. (11897040)
2002
28
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (12437656)
2002
29
Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells. (12014808)
2002
30
Complete arrest from pro- to pre-B cells in a case of B cell-negative severe combined immunodeficiency (SCID) without recombinase activating gene (RAG) mutations. (11472408)
2001
31
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. (11668621)
2001
32
Cure of Burkitt's lymphoma in severe combined immunodeficiency mice by T cells, tetravalent CD3 x CD19 tandem diabody, and CD28 costimulation. (10969772)
2000
33
Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency. (9885222)
1999
34
Estimation of the prevalence of severe combined immunodeficiency disease in UK Arab horses as determined by a DNA-based test. (10452394)
1999
35
Role of the matrix metalloproteinase and tissue inhibitors of metalloproteinase families in noninvasive and invasive tumors transplanted in mice with severe combined immunodeficiency. (9610608)
1998
36
Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. (9797872)
1998
37
Ganglioside composition of a mouse brain tumor grown in the severe combined immunodeficiency (SCID) mouse. (9493174)
1998
38
Engraftment of human myelodysplastic syndrome derived cell line in transgenic severe combined immunodeficient (TG-SCID) mice expressing human GM-CSF and IL-3. (9714520)
1998
39
Minisatellite instability in severe combined immunodeficiency mouse cells. (9380717)
1997
40
Growth of human T-cell lineage acute leukemia in severe combined immunodeficiency (SCID) mice and non-obese diabetic SCID mice. (9292537)
1997
41
Antibody to gp39, the ligand for CD40 significantly inhibits the humoral response from Graves' thyroid tissues xenografted into severe combined immunodeficient (SCID) mice. (8875745)
1996
42
IFN-gamma has a protective role against thyroid-specific autoantibody production in severe combined immunodeficient (SCID) mice xenografted with Graves' thyroid tissue. (8936668)
1996
43
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. (8986719)
1996
44
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. (7860773)
1995
45
Improved engraftment of human hematopoietic cells in severe combined immunodeficient (SCID) mice carrying human cytokine transgenes. (7500049)
1995
46
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. (8410508)
1993
47
In vivo efficacy of B43 (anti-CD19)-pokeweed antiviral protein immunotoxin against human pre-B cell acute lymphoblastic leukemia in mice with severe combined immunodeficiency. (1373967)
1992
48
Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID). (1749685)
1991
49
Successful bone marrow transplantation and treatment of BCG infection in two patients with severe combined immunodeficiency. (1915499)
1991
50
Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency. (947948)
1976

Variations for Severe Combined Immunodeficiency

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Expression for genes affiliated with Severe Combined Immunodeficiency

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Search GEO for disease gene expression data for Severe Combined Immunodeficiency.

Pathways for genes affiliated with Severe Combined Immunodeficiency

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Pathways related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8IL7R, IL2RG
29.8RAG2, ADA
3
Show member pathways
Non-homologous end joining36
DNA damage NHEJ mechanisms of DSBs repair58
9.8DCLRE1C, NHEJ1
49.7JAK3, IL2RG
59.7IL2RG, JAK3
6
Show member pathways
9.7IL2RG, JAK3
7
Show member pathways
9.7IL2RG, JAK3
89.4CD3D, IL2
9
Show member pathways
TCR signaling in naive CD8+ T cells36
9.3CD3D, ZAP70
109.3CD3D, ZAP70
119.3CD3D, ZAP70
12
Show member pathways
9.3ZAP70, CD3D
13
Show member pathways
9.3CD3D, ZAP70
149.3CD3D, ZAP70
15
Show member pathways
IL2 signaling events mediated by STAT536
9.2JAK3, IL2, IL2RG
16
Show member pathways
9.2JAK3, IL2, IL2RG
17
Show member pathways
Immune response IL 3 activation and signaling pathway58
9.2IL2RG, IL2, JAK3
18
Show member pathways
IL-2 Signaling pathway36
9.2IL2RG, IL2, JAK3
19
Show member pathways
9.1CD3D, IL2RG, IL2
20
Show member pathways
Ras signaling in the CD4+ TCR pathway36
9.1CD3D, IL2RG, IL2
21
Show member pathways
Immune response IL 12 induced IFN gamma production58
9.1IL2, IL2RG, CD3D
229.0IL2, IL2RG, ZAP70
23
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.9RAG2, RAG1, IL7R
24
Show member pathways
8.9JAK3, ZAP70, CD3D
25
Show member pathways
8.9JAK3, IL2, IL7R, IL2RG
26
Show member pathways
Type III interferon signaling36
8.9JAK3, IL2, IL7R, IL2RG
27
Show member pathways
8.9JAK3, IL2, IL7R, IL2RG
288.9IL2RG, IL7R, IL2, JAK3
29
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.9IL2RG, IL7R, IL2, JAK3
30
Show member pathways
8.9IL2RG, IL7R, IL2, JAK3
31
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis58
8.8IL2, ZAP70, CD3D
32
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.8CD3D, ZAP70, IL2
338.7JAK3, IL2, IL2RG, CD3D
34
Show member pathways
8.7JAK3, IL2, IL2RG, CD3D
35
Show member pathways
8.5IL2, IL2RG, ZAP70, CD3D
368.5ZAP70, RAG1, IL2
37
Show member pathways
8.4JAK3, IL2, ZAP70, CD3D
38
Show member pathways
8.3JAK3, IL2, IL7R, IL2RG, CD3D
39
Show member pathways
Immune response IL 22 signaling pathway58
G protein signaling N RAS regulation pathway58
8.1JAK3, IL2, IL2RG, ZAP70, CD3D
40
Show member pathways
7.7JAK3, IL2, IL7R, IL2RG, ZAP70, CD3D
41
Show member pathways
7.7CD3D, ZAP70, IL2RG, IL7R, IL2, JAK3
426.4CD3D, DCLRE1C, JAK3, ADA, IL7R, IL2RG

Compounds for genes affiliated with Severe Combined Immunodeficiency

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Compounds related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1busulfan43 49 1212.2ADA, DCLRE1C
2denileukin diftitox43 49 1212.0IL2, IL2RG
3pentostatin43 59 28 1213.0IL2, ADA
4ranitidine43 28 24 1212.9ADA, IL2
52-chlorodeoxyadenosine439.9IL2, ADA
62,5-oligoadenylate439.8IL2, ADA
7propanil439.8JAK3, IL2
8ribavirin43 49 1211.7IL2, ADA
9mycophenolate mofetil43 49 1211.6IL2, JAK3
10neopterin439.6ADA, IL2
11neomycin439.6IL2, ADA
12pyrimidine43 2410.6ADA, JAK3
13okt3439.6IL2, ZAP70
14herbimycin a43 5910.5IL7R, IL2, JAK3
15probenecid28 43 59 49 1213.5RAG1, RAG2
16fludarabine43 49 1211.4ZAP70, IL2, ADA
17phosphotyrosine439.3ZAP70, IL7R, JAK3
18caffeine43 28 2 49 24 1214.3ADA, RAG1, RAG2
19cyclosporin a43 28 5911.2IL2RG, IL2, ADA, JAK3
20ionomycin439.1RAG1, IL7R, IL2
21rituximab43 49 1211.0ZAP70, IL2
22genistein43 28 59 2 24 1214.0ZAP70, IL2, JAK3
23cytidine43 24 1210.7ZAP70, RAG2, RAG1, ADA
24dexamethasone43 49 28 1211.5ZAP70, RAG1, IL2, ADA
25tyrosine438.5JAK3, IL2, IL7R, IL2RG, ZAP70

GO Terms for genes affiliated with Severe Combined Immunodeficiency

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Cellular components related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.5IL2RG, IL7R, ADA
2T cell receptor complexGO:00421019.0CD3D, ZAP70

Biological processes related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1interleukin-7-mediated signaling pathwayGO:003811110.2IL7R, IL2RG
2positive regulation of T cell differentiation in thymusGO:003308910.1IL7R, ADA
3interleukin-4-mediated signaling pathwayGO:003577110.0IL2RG, JAK3
4positive regulation of alpha-beta T cell differentiationGO:00466389.8ADA, ZAP70
5positive regulation of calcium-mediated signalingGO:00508509.7ZAP70, ADA
6positive regulation of B cell proliferationGO:00308909.7IL2, ADA
7negative regulation of inflammatory responseGO:00507289.6IL2, ADA
8pre-B cell allelic exclusionGO:00023319.6RAG2, RAG1
9positive thymic T cell selectionGO:00450599.6ZAP70, CD3D
10V(D)J recombinationGO:00331519.5RAG1, RAG2
11nucleic acid phosphodiester bond hydrolysisGO:00903059.5DCLRE1C, RAG1
12response to ionizing radiationGO:00102129.5NHEJ1, DCLRE1C
13T cell activationGO:00421109.4ADA, ZAP70
14T cell differentiation in thymusGO:00330779.4RAG1, RAG2
15T cell homeostasisGO:00430299.4RAG1, JAK3
16DNA recombinationGO:00063109.2NHEJ1, DCLRE1C, RAG1
17negative regulation of thymocyte apoptotic processGO:00702449.2JAK3, ADA, RAG1
18adaptive immune responseGO:00022509.0ZAP70, RAG1
19B cell differentiationGO:00301838.4NHEJ1, DCLRE1C, JAK3, RAG1, RAG2
20T cell differentiationGO:00302178.4CD3D, ZAP70, IL7R, IL2, NHEJ1
21immune responseGO:00069558.2ZAP70, RAG1, IL2RG, IL7R, IL2

Molecular functions related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:00049179.5IL2RG, IL7R
2non-membrane spanning protein tyrosine kinase activityGO:00047159.4ZAP70, JAK3

Products for genes affiliated with Severe Combined Immunodeficiency

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Sources for Severe Combined Immunodeficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet