SCID
MCID: SVR004
MIFTS: 75

Severe Combined Immunodeficiency (SCID) malady

Blood category

Summaries for Severe Combined Immunodeficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

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NIH Rare Diseases:43 Severe combined immunodeficiencies (scid) are inherited immune system disorders characterized by defects in both t cells and b cells. scid causes a high susceptibility to life-threatening infections and failure to thrive. without treatment, people with scid do not tend to live past early childhood. two common types of scid include:  x-linked scid adenosine deaminase deficiency (ada-scid) last updated: 8/10/2011

MalaCards: Severe Combined Immunodeficiency, also known as SCID, is related to gamma chain deficiency and omenn syndrome, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, repeat respiratory infections and anomalies of the lymphatic system. An important gene associated with Severe Combined Immunodeficiency is IL2RG (interleukin 2 receptor, gamma), and among its related pathways are Akt Signaling and Rho Family GTPases. The drug pegademase bovine and the compounds tyrosine and cyclosporin a have been mentioned in the context of this disorder. Related mouse phenotypes are immune system and hematopoietic system.

Disease Ontology:8 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:64 Severe combined immunodeficiency (SCID), (also known as \"Alymphocytosis,\" \"Glanzmann–Riniker... more...

Aliases & Classifications for Severe Combined Immunodeficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 22GTR, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
severe combined immunodeficiency:
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

severe combined immunodeficiency 8 43 10 45 49 31 61
scid 8 43 49
severe combined immunodeficiency disease 8 22
severe combined immunodeficiency due to adenosine deaminase deficiency 61
combined t and b cell inborn immunodeficiency 8
bubble boy disease 43


External Ids:

Disease Ontology8 DOID:627
MeSH35 D016511
NCIt40 C3472
MESH via Orphanet36 D016511
SNOMED-CT57 190994004, 31323000
ICD10 via Orphanet26 D81.0, D81.1, D81.2 D81.3, more
SNOMED-CT via Orphanet58 31323000
UMLS via Orphanet62 C0085110

Related Diseases for Severe Combined Immunodeficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 302)
idRelated DiseaseScoreTop Affiliating Genes
1gamma chain deficiency31.2JAK3, IL18R1, IL15, ADA, LMO2, IL2
2omenn syndrome30.9RAG2, RAG1, DCLRE1C
3acute leukemia30.7IL18R1, IL9, IL7, IL2, LMO2, RAG1
4graft versus host disease30.6JAK3, IL15, IL7, IL4, IL2RB, IL2
5arthritis30.5JAK3, IL18R1, IL15, IL4, IL2RB, RAG2
6severe combined immunodeficiency, b cell-negative30.5RAG1, RAG2
7agammaglobulinemia30.4IL2, IL4
8t-cell leukemia30.3ZAP70, IL18R1, IL9, IL2RB, IL2, LMO2
9hepatitis c30.3IL15, IL7R, IL7
10burkitt's lymphoma30.3ZAP70, IL7, IL4, RAG1
11tuberculosis30.3IL7, IL4, IL2, ADA
12graves' disease30.3IL4
13synovitis30.1IL15, IL7
14acute lymphocytic leukemia30.0JAK3, ZAP70, IL18R1, IL7R, IL7, LMO2
15non-hodgkin lymphoma30.0IL15, IL9, IL7, IL2RB, IL2, RAG1
16anaplastic large cell lymphoma30.0JAK3, ZAP70, IL18R1, IL9, IL2RB
17acute graft versus host disease30.0IL2, IL2RB, IL4, IL15
18leukopenia30.0IL2
19adenocarcinoma30.0ADA, IL18R1
20pulmonary tuberculosis30.0IL4, IL2, ADA
21primary immunodeficiency disease30.0LIG4
22thrombocytopenia30.0IL2, IL7
23colorectal cancer29.9IL2, IL15, IL18R1
24atopy29.7IL4, IL9, IL15
25dna ligase iv deficiency29.7NHEJ1
26vaccinia29.7IL2, LIG4
27ataxia telangiectasia29.7RAG1, LIG4, DCLRE1C
28asthma29.7IL4, IL18R1
29adenosine deaminase deficiency10.9
30hematopoietic stem cell transplantation10.7
31zap70-related severe combined immunodeficiency10.6
32achondroplasia and severe combined immunodeficiency10.6
33severe combined immunodeficiency, atypical10.5
34severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
35b cell deficiency10.4
36severe combined immunodeficiency with sensitivity to ionizing radiation10.4
37severe combined immunodeficiency, athabascan type10.4
38reticular dysgenesis10.4
39t cell deficiency10.3
40immunodeficiency 810.3
41severe combined immunodeficiency due to lck deficiency10.3
42digeorge syndrome10.3
43n syndrome10.3
44severe combined immunodeficiency due to dna-pkcs deficiency10.3
45multiple intestinal atresia10.2
46trachoma10.2
47x-linked sideroblastic anemia with ataxia10.2
48cd3zeta deficiency10.2
49cd3delta deficiency10.2
50t lymphocyte deficiency10.2

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



Diseases related to severe combined immunodeficiency

Clinical Features for Severe Combined Immunodeficiency

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 21)
  • malabsorption/chronic diarrhea/steatorrhea
  • repeat respiratory infections
  • anomalies of the lymphatic system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • severe combined immune deficiency syndrome/scid
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fever/chilling
  • sepsis severe/septicemia
  • cutaneous rash
  • alopecia
  • tonsil anomaly/hypertrophy/adenoiditis
  • lymphopenia
  • microcephaly
  • anomalies of teeth and dentition
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • recurrent urinary infections

Drugs & Therapeutics for Severe Combined Immunodeficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Severe Combined Immunodeficiency

Drug clinical trials:

Search ClinicalTrials for Severe Combined Immunodeficiency

Search NIH Clinical Center for Severe Combined Immunodeficiency

Search CenterWatch for Severe Combined Immunodeficiency

Inferred drug relations via UMLS61/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Severe Combined Immunodeficiency cell therapies at LifeMap Discovery.

Genetic Tests for Severe Combined Immunodeficiency

Sources:
22GTR
See all sources

Genetic tests related to Severe Combined Immunodeficiency:

id Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease22

Anatomical Context for Severe Combined Immunodeficiency

Sources:
31LifeMap Discovery™
See all sources

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Severe Combined Immunodeficiency

Sources:
51PubMed
See all sources

Articles related to Severe Combined Immunodeficiency:

(show top 50)    (show all 638)
idTitleAuthorsYear
1
Flow cytometric assessment of cord blood as an alternative strategy for population-based screening of severe combined immunodeficiency. (23333079)
2013
2
Monoclonal IgG Kappa gammopathy previous to hematopoietic stem cell transplantation in an infant with severe combined immunodeficiency. (23022654)
2012
3
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. (22460439)
2012
4
The long quest for neonatal screening for severe combined immunodeficiency. (22277203)
2012
5
Disseminated BCG infection in severe combined immunodeficiency. (21879238)
2012
6
Left ventricular aneurysm in a child with severe combined immunodeficiency syndrome. (19853138)
2009
7
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
8
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. (24198507)
2009
9
Recombinant DNA advisory committee updates recommendations on gene transfer for x-linked severe combined immunodeficiency. (19404322)
2009
10
Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl. (19890784)
2009
11
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. (19168787)
2009
12
Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases. (18162224)
2008
13
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. (17512212)
2007
14
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. (17586199)
2007
15
Severe combined immunodeficiency in a Fell pony foal. (16466458)
2006
16
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. (16601912)
2006
17
Combretastatin A-1 phosphate potentiates the antitumor activity of carboplatin and paclitaxel in a severe combined immunodeficiency disease (SCID) mouse model of human ovarian carcinoma. (16884365)
2006
18
Novel RAG1 mutation in a case of severe combined immunodeficiency. (16061569)
2005
19
T-cell-depleted CD34+ cell transplantation from an HLA-mismatched donor in a low-birthweight infant with X-linked severe combined immunodeficiency. (15701981)
2005
20
Severe combined immunodeficiency syndrome associated with colonic stenosis. (15325511)
2004
21
Long-term CD4+ and CD8+ memory T cells developed in severe combined immunodeficiency mice during homoeostasis exhibit differences in sensitivity to antigen. (12662293)
2003
22
A CD45 minigene restores regulated isoform expression and immune function in CD45-deficient mice: therapeutic implications for human CD45-null severe combined immunodeficiency. (12393487)
2003
23
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. (12529469)
2003
24
The role of donor CD4(+) T cells in the reconstitution of oral immunity by herpes simplex virus type 1 in severe combined immunodeficiency mice. (11865391)
2002
25
Allogeneic bone marrow transplantation for active Epstein-Barr virus-related lymphoproliferative disease and hemophagocytic lymphohistiocytosis in an infant with severe combined immunodeficiency syndrome. (11960273)
2002
26
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. (11260071)
2001
27
Immune reconstitution prevents continuous equine infectious anemia virus replication in an Arabian foal with severe combined immunodeficiency: lessons for control of lentiviruses. (11683583)
2001
28
Severe combined immunodeficiency--molecular pathogenesis and diagnosis. (11159300)
2001
29
Similar pattern of thymic-dependent T-cell reconstitution in infants with severe combined immunodeficiency after human leukocyte antigen (HLA)-identical and HLA-nonidentical stem cell transplantation. (11110711)
2000
30
Human peripheral blood lymphocyte severe combined immunodeficiency (hu-PBL SCID) models of toxoplasmosis. (11114971)
2000
31
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. (10784449)
2000
32
Thirty years of bone marrow transplantation for severe combined immunodeficiency. (10021479)
1999
33
Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the european society for immunodeficiency. (10356144)
1999
34
Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. (9573000)
1998
35
Minisatellite instability in severe combined immunodeficiency mouse cells. (9380717)
1997
36
Growth of human T-cell lineage acute leukemia in severe combined immunodeficiency (SCID) mice and non-obese diabetic SCID mice. (9292537)
1997
37
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. (9350822)
1997
38
Eradication of established hepatic human neuroblastoma metastases in mice with severe combined immunodeficiency by antibody-targeted interleukin-2. (8620525)
1996
39
Granulocyte colony-stimulating factor recruitment of CD34+ progenitors to peripheral blood: impaired mobilization in chronic granulomatous disease and adenosine deaminase--deficient severe combined immunodeficiency disease patients. (8704221)
1996
40
In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. (8676091)
1996
41
Retroviral vector for gene therapy of X-linked severe combined immunodeficiency syndrome. (7633846)
1995
42
Association of kyphomelic dysplasia with severe combined immunodeficiency. (7573142)
1995
43
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). (8299233)
1994
44
Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. (8202712)
1994
45
Treatment of patients with severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency by autologous transplantation of genetically modified bone marrow cells. (1420454)
1992
46
Prenatal diagnosis of severe combined immunodeficiency and X-linked agammaglobulinemia. (6606444)
1983
47
Effect of adenosine deaminase replacement therapy on a child of adenosine deaminase deficiency with severe combined immunodeficiency disease. (494247)
1979
48
Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency. (627559)
1978
49
Severe combined immunodeficiency and adenosine deaminase deficiency. (1089883)
1975
50
Adenosine deaminase deficiency in a child with severe combined immunodeficiency. (4127044)
1973

Genetic Variations for Severe Combined Immunodeficiency

Expression for genes affiliated with Severe Combined Immunodeficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Severe Combined Immunodeficiency

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

Pathways for genes affiliated with Severe Combined Immunodeficiency

Sources:
52QIAGEN, 30KEGG, 53R&D Systems, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.0IL7, IL7R, IL4, IL2RB, IL2RG, IL2
2
Hide members
10.9JAK3, ZAP70, CD3D, IL18R1, IL15, IL9
310.9IL15, IL9, IL7R, IL7, IL4, JAK3
4
Hide members
10.9IL2, IL2RG, IL2RB, IL4, IL7, IL7R
5
Hide members
10.9IL7, IL18R1, IL2RG, IL2, IL2RB, IL4
6
Hide members
10.9IL7R, IL7, IL2RB, IL2RG, IL2, IL7
7
Hide members
10.8IL15, IL21, IL7R, IL2RG, IL9, IL18R1
810.8ZAP70, DCLRE1C, CD3D, IL7R, IL2RG, RAG2
910.8IL7, IL4, IL2RG, IL2RB, IL7R, IL2
10
Hide members
10.8IL7R, IL9, IL18R1, IL2RG, IL2, IL2RB
11
Hide members
10.8CD3D, IL15, IL4, IL2RB, JAK3, IL2
12
Hide members
10.7JAK3, IL7R, IL2RB, IL2RG, IL2, IL7
13
Hide members
10.7JAK3, IL7R, IL7, IL2, IL2RG, IL2RB
1410.7IL2, IL2RG, IL2RB, JAK3, CD3D, IL15
15
Hide members
10.7IL2, IL18R1, CD3D, IL4, IL2RG, IL2RB
16
Hide members
10.7JAK3, ZAP70, IL4, IL2RG, IL2
17
Hide members
10.7IL9, CD3D, ZAP70, JAK3, IL2
18
Hide members
10.7CD3D, IL2RB, IL2, ZAP70, IL2RG
19
Hide members
10.7IL2, IL2RG, IL2RB, IL4, JAK3
20
Hide members
10.7IL4, IL2RG, IL2RB, JAK3, IL2
2110.7ZAP70, IL4, IL2RG, IL2, IL2RB
22
Hide members
10.7IL9, IL4, ZAP70, CD3D, IL2
23
Hide members
10.7IL15, CD3D, IL2RB, IL2RG, IL2
24
Hide members
10.7IL4, IL21, IL2, IL18R1, IL2RG
2510.7ZAP70, IL2, IL4, RAG1, IL2RB
26
Hide members
10.7CD3D, IL9, IL18R1, IL15, IL4
2710.6IL2, JAK3, IL2RB, IL2RG
28
Immune response IL-2 activation and signaling pathway
Hide members
10.6IL2RB, IL2, IL2RG, JAK3
29
Hide members
10.6IL2RB, IL2, IL2RG, JAK3
30
Hide members
10.6IL4, IL2RG, JAK3, IL21
3110.6IL4, CD3D, IL7R, IL7
3210.6CD3D, IL2RB, IL2RG, IL2
3310.6IL2, IL15, IL9, IL4
3410.6IL2RG, IL4, JAK3
3510.6IL2RG, IL4, JAK3
36
Hide members
10.6DCLRE1C, NHEJ1, LIG4
37
Cytokine production by Th17 cells in CF (Mouse model)
10.6JAK3, IL2RG, IL21
3810.6IL4, IL9, IL2RG
3910.6CD3D, ZAP70, IL2
4010.6IL4, IL21, IL2RG
4110.6IL4, IL9, IL2
4210.6IL18R1, IL2, CD3D
4310.6IL7R, JAK3
44
Hide members
10.6IL2RG, IL7
4510.6IL7, IL2RG

Compounds for genes affiliated with Severe Combined Immunodeficiency

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
See all sources

Compounds related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1tyrosine4511.4IL21, IL15, IL18R1, ZAP70, JAK3, IL9
2cyclosporin a45 29 6013.3JAK3, IL18R1, IL15, IL7, IL4, IL2RB
3dexamethasone45 50 29 1114.3ZAP70, IL18R1, IL15, IL7, IL4, IL2RB
4ionomycin4511.3IL15, IL9, IL7R, IL7, IL4, IL2RB
5thymidine45 2412.2ZAP70, IL18R1, IL15, IL9, IL7, IL4
6okt34511.2IL2, ZAP70, IL18R1, IL15, IL7, IL4
7rantes4511.2IL18R1, IL15, IL9, IL7, IL4, IL2RB
8vegf4511.2JAK3, IL18R1, IL15, IL7, IL4, IL2RB
9phosphatidylinositol4511.2JAK3, ZAP70, LIG4, IL18R1, IL15, IL7R
10histamine45 29 2413.2IL15, IL9, IL7, IL4, IL2RB, IL2
11cyclophosphamide45 50 1113.1ZAP70, IL15, IL7, IL4, IL2RB, IL2
12c-d4t4511.1IL15, IL9, IL7, IL4, IL2
13tacrolimus45 50 1113.1IL18R1, IL15, IL7, IL4, IL2RB, IL2
14phosphotyrosine4511.1JAK3, ZAP70, IL18R1, IL7R, IL7, IL2RB
15cytidine45 11 2413.1ZAP70, IL21, RAG1, RAG2, ADA
16il 104511.1IL15, IL7, IL4, IL2RB, IL2
17alanine4511.1LIG4, IL18R1, IL15, IL7, IL2RB, RAG1
18neopterin4511.1IL18R1, IL4, IL2RB, IL2, ADA
19genistein45 29 60 2 11 2416.1IL2, IL2RB, IL7, IL9, ZAP70, JAK3
20ctla4-ig4511.1IL15, IL7, IL2RB, IL2
21alpha-galactosylceramide4511.1IL15, IL7, IL4, IL2
22basiliximab45 1112.1IL2, IL2RB, IL7, IL15
23il-124511.0IL2, IL4, IL7, IL15
24leflunomide50 45 1113.0IL2RB, IL15, IL18R1, JAK3
25con a4511.0IL21, IL4, IL2RB, IL2
26methylcellulose4511.0IL15, IL9, IL7, IL4
2712-o-tetradecanoylphorbol 13-acetate4511.0IL18R1, IL9, IL7, IL2RB, RAG1
28infliximab45 50 1113.0IL18R1, IL15, IL4, IL2RB
29denileukin diftitox45 50 1113.0IL2RB, IL2RG, IL2
30gp 1304511.0IL7R, IL15, IL18R1, JAK3
31pge24511.0JAK3, IL2
32rapamycin4511.0IL18R1, IL15, IL7, IL2RB, IL2
33propanil4510.9IL2, IL18R1, JAK3
34daclizumab45 1111.9IL15, IL2RB, IL2
35herbimycin a45 6011.9IL2, IL4, IL7R, JAK3
36serine4510.9JAK3, IL18R1, IL9, IL2RB, RAG2
37tdac4510.9IL4, IL2
38r-il-24510.9IL2RB, IL2
39cycloheximide4510.9IL2RB, JAK3
40polyinosinic-polycytidylic acid4510.8IL15, IL4, IL2
412,5-oligoadenylate4510.8IL2RB, IL2, ADA
42etanercept45 50 1112.8IL2RB, IL15, IL18R1
43zinc45 2411.8IL18R1, IL15, IL2RB, LMO2, RAG1, RAG2
44mycophenolate mofetil45 50 1112.8IL2, IL2RB, JAK3
45lipid4510.8IL2RB, IL7, IL9, IL15, IL18R1, ZAP70
46fludarabine45 1111.8ZAP70, IL2, ADA
47nitric oxide45 11 2412.7JAK3, IL18R1, IL15, IL9, IL7, IL2RB
48methacholine45 1111.7IL2RB, IL4, IL9
49ribavirin45 50 1112.5ADA, IL2, IL4
50ivig4510.3IL18R1, IL4, IL2RB

GO Terms for genes affiliated with Severe Combined Immunodeficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.7IL2RG, IL7R, IL4, IL2RB, ADA
2extracellular spaceGO:00561510.7ADA, IL15, IL21, IL9, IL7, IL4
3T cell receptor complexGO:04210110.6CD3D, ZAP70
4nonhomologous end joining complexGO:07041910.3NHEJ1, LIG4

Biological processes related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1immune responseGO:00695511.3IL4, ZAP70, IL18R1, IL15, IL21, IL9
2B cell differentiationGO:03018311.1NHEJ1, RAG2, RAG1, IL4, DCLRE1C, JAK3
3T cell differentiationGO:03021711.1NHEJ1, IL7R, ZAP70, IL2, CD3D
4positive regulation of B cell proliferationGO:03089011.1IL7, IL4, IL2, ADA, IL21
5negative regulation of thymocyte apoptotic processGO:07024411.0JAK3, ADA, RAG1
6V(D)J recombinationGO:03315111.0RAG2, LIG4, RAG1
7positive regulation of tissue remodelingGO:03410511.0IL21, IL2, IL15
8positive regulation of cell proliferationGO:00828411.0IL21, IL2, IL15, IL9, IL7
9positive regulation of T cell differentiationGO:04558211.0IL4, IL7, ZAP70
10positive regulation of interleukin-17 productionGO:03274011.0IL2, IL21, IL15
11T cell differentiation in thymusGO:03307711.0RAG2, RAG1, LIG4
12interleukin-7-mediated signaling pathwayGO:03811110.9IL2RG, IL7R
13interleukin-2-mediated signaling pathwayGO:03811010.9IL2RB, IL2RG
14positive regulation of T cell proliferationGO:04210210.9IL4, IL21, IL15
15pre-B cell allelic exclusionGO:00233110.9RAG2, RAG1
16positive regulation of inflammatory responseGO:05072910.9IL15, IL21, IL2
17T cell lineage commitmentGO:00236010.9RAG2, IL7
18interleukin-4-mediated signaling pathwayGO:03577110.9IL2RG, JAK3
19signal transductionGO:00716510.9IL2RG, IL18R1, IL15, IL21, IL7R, IL2RB
20positive regulation of isotype switching to IgG isotypesGO:04830410.8IL2, IL4
21DNA recombinationGO:00631010.8RAG1, DCLRE1C, NHEJ1
22regulation of T cell differentiationGO:04558010.8RAG1, IL15
23positive regulation of T cell differentiation in thymusGO:03308910.8IL7R, ADA
24positive thymic T cell selectionGO:04505910.8CD3D, ZAP70
25positive regulation of alpha-beta T cell differentiationGO:04663810.8ADA, ZAP70
26positive regulation of natural killer cell differentiationGO:03282510.7IL21, IL15
27lymph node developmentGO:04853510.7IL7R, IL15
28positive regulation of organ growthGO:04662210.6IL7, RAG2
29double-strand break repair via nonhomologous end joiningGO:00630310.6LIG4, NHEJ1
30natural killer cell activationGO:03010110.6IL2, IL18R1
31positive regulation of interleukin-10 productionGO:03273310.5IL21, IL4
32positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.3IL2, IL4

Molecular functions related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.0JAK3, ZAP70, LIG4, IL15, IL7R, IL7
2cytokine activityGO:00512510.9IL4, IL15, IL2, IL21, IL7, IL9
3interleukin-7 receptor activityGO:00491710.7IL2RG, IL7R
4interleukin-2 receptor activityGO:00491110.7IL2RG, IL2RB
5growth factor activityGO:00808310.6IL7, IL9, IL2, IL4
6interleukin-2 bindingGO:01997610.6IL2RG, IL2RB
7interleukin-2 receptor bindingGO:00513410.5IL2, IL21
8cytokine receptor bindingGO:00512610.3IL15, IL21

Products for genes affiliated with Severe Combined Immunodeficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Severe Combined Immunodeficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet