SCID
MCID: SVR004
MIFTS: 85

Severe Combined Immunodeficiency (SCID) malady

Blood diseases, Immune diseases categories

Summaries for Severe Combined Immunodeficiency

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 leukemia, and has symptoms including immunodeficiency/increased susceptibility to infections/recurrent infections, hepatomegaly/liver enlargement (excluding storage disease) and sepsis severe/septicemia. 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. Affiliated tissues include t cells, b cells and bone, and 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:63 Severe combined immunodeficiency (SCID), (also known as \"Alymphocytosis,\" \"Glanzmann–Riniker... more...

Aliases & Classifications for Severe Combined Immunodeficiency

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 10 44 48 30 60
scid 8 42 48
severe combined immunodeficiency disease 8 22
severe combined immunodeficiency due to adenosine deaminase deficiency 60
combined t and b cell inborn immunodeficiency 8
bubble boy disease 42


External Ids:

Disease Ontology8 DOID:627
MeSH34 D016511
NCIt39 C3472
MESH via Orphanet35 D016511
SNOMED-CT56 190994004, 31323000
ICD10 via Orphanet26 D81.0, D81.1, D81.2 D81.3, more
SNOMED-CT via Orphanet57 31323000
UMLS via Orphanet61 C0085110

Related Diseases for Severe Combined Immunodeficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 322)
idRelated DiseaseScoreTop Affiliating Genes
1gamma chain deficiency31.2JAK3, IL18R1, IL15, ADA, LMO2, IL2
2leukemia31.0IL7R, IL9, IL15, IL18R1, LIG4, ZAP70
3omenn syndrome30.9RAG2, RAG1, DCLRE1C
4acute leukemia30.7IL18R1, IL9, IL7, IL2, LMO2, RAG1
5lung cancer30.6IL2, JAK3
6graft versus host disease30.6JAK3, IL15, IL7, IL4, IL2RB, IL2
7lymphopenia30.5IL7R, IL15, ZAP70, JAK3, IL7, IL4
8myeloma30.5IL2, IL4, IL7, IL7R, IL15, IL18R1
9hepatitis30.5IL2RB
10severe combined immunodeficiency, b cell-negative30.5RAG1, RAG2
11arthritis30.5JAK3, IL18R1, IL15, IL4, IL2RB, RAG2
12prostate cancer30.5IL7, IL18R1, LIG4, DCLRE1C
13pneumonia30.5IL2RB
14rheumatoid arthritis30.4JAK3, ZAP70, IL18R1, IL15, IL21, IL7
15hodgkin's lymphoma30.4ZAP70, IL18R1, IL9, IL7, IL2RB, IL2
16herpes simplex30.4IL7, IL18R1
17agammaglobulinemia30.4IL2, IL4
18t-cell leukemia30.2ZAP70, IL18R1, IL9, IL2RB, IL2, LMO2
19breast cancer30.2JAK3, LIG4, IL18R1, IL15, IL7R, IL7
20myeloid leukemia30.2JAK3, IL18R1, IL9
21burkitt's lymphoma30.2ZAP70, IL7, IL4, RAG1
22tuberculosis30.2IL7, IL4, IL2, ADA
23myasthenia gravis30.2IL2, IL4, IL15
24graves' disease30.2IL4
25endometriosis30.2IL15
26synovitis30.0IL15, IL7
27sarcoma30.0ADA, IL2, IL18R1
28melanoma30.0ZAP70, IL18R1, IL15, IL21, IL7R, IL7
29acute lymphocytic leukemia30.0JAK3, ZAP70, IL18R1, IL7R, IL7, LMO2
30chronic lymphocytic leukemia30.0ZAP70, IL18R1, IL7, IL4, IL2, ADA
31anaplastic large cell lymphoma30.0JAK3, ZAP70, IL18R1, IL9, IL2RB
32psoriasis30.0IL15, IL7, IL4, IL2, IL18R1
33eosinophilia30.0IL9, IL4, IL2RB, IL2
34malaria30.0IL2RB, IL18R1
35hepatitis b30.0IL2
36encephalomyelitis30.0IL21, IL4, IL2
37adenocarcinoma30.0ADA, IL18R1
38dna ligase iv deficiency30.0NHEJ1
39combined cellular and humoral immune defects with granulomas30.0RAG1, RAG2
40pulmonary tuberculosis30.0IL4, IL2, ADA
41fibrosarcoma30.0IL2, IL15
42thrombocytopenia30.0IL2, IL7
43down syndrome30.0JAK3
44skin disease30.0IL2
45pancreatic cancer30.0IL15, IL18R1
46peritonitis29.9IL18R1, IL15, ADA
47colorectal cancer29.9IL2, IL15, IL18R1
48ovarian cancer29.9JAK3, IL2
49multiple sclerosis29.7IL18R1, IL15, IL9, IL7R, IL7, IL4
50leishmaniasis29.7IL4

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



Diseases related to severe combined immunodeficiency

Clinical Features for Severe Combined Immunodeficiency

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Severe Combined Immunodeficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

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

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22GTR
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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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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Severe Combined Immunodeficiency:

32
T cells, B cells, Bone, Bone marrow, Lung, Liver, Thyroid, Prostate, Skin, Testes, Monocytes, Tonsil, Myeloid, Colon, Breast, Fetal liver, Nk cells, Pancreas, Small intestine, Endothelial, Adipocyte, Brain

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

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36MGI
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MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.5IL21, IL15, IL18R1, RAG1, CD3D, LIG4
2MP:000539711.5IL21, IL7, IL4, RAG2, RAG1, LMO2
3MP:000538411.4IL7, IL2, JAK3, ADA, NHEJ1, RAG2
4MP:000537011.0IL4, IL2RB, IL2, LMO2, RAG2, ADA
5MP:000538111.0RAG2, LIG4, IL9, IL4, IL2RG, IL2
6MP:001076810.8ADA, RAG1, LMO2, IL2, IL4, IL15
7MP:000538910.8IL15, IL4, ADA, RAG2, IL2, IL2RG
8MP:000200610.8IL2, IL2RG, RAG2, LMO2, RAG1
9MP:000287310.8ZAP70, IL21, IL7R, IL4, RAG2, ADA
10MP:000538810.6RAG2, IL2RG
11MP:000537610.6ADA, IL9, LIG4, IL4, IL2RG, IL2

Publications for Severe Combined Immunodeficiency

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50PubMed
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Articles related to Severe Combined Immunodeficiency:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. (24033554)
2013
2
Effect of oxygen tensions on the proliferation and angiogenesis of endometriosis heterograft in severe combined immunodeficiency mice. (24290003)
2013
3
Protective effect of Clostridium tyrobutyricum in acute dextran sodium sulphate-induced colitis: differential regulation of tumour necrosis factor-I+ and interleukin-18 in BALB/c and severe combined immunodeficiency mice. (22236013)
2012
4
Generation and characterization of severe combined immunodeficiency rats. (22981234)
2012
5
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. (22285280)
2012
6
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. (19830125)
2009
7
Orally administered rapamycin, dacarbazine or both for treatment of human melanoma evaluated in severe combined immunodeficiency mice. (18810248)
2008
8
Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency. (18845095)
2008
9
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. (18992930)
2008
10
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. (17512212)
2007
11
Severe combined immunodeficiency-repopulating cell assay may overestimate long-term repopulation ability. (17761755)
2007
12
Long-term therapy with aerosolized ribavirin for parainfluenza 3 virus respiratory tract infection in an infant with severe combined immunodeficiency. (17300503)
2007
13
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
14
A selective cyclooxygenase-2 inhibitor suppresses the growth of endometriosis xenografts via antiangiogenic activity in severe combined immunodeficiency mice. (16962108)
2006
15
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. (16585603)
2006
16
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
17
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
18
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. (15610804)
2004
19
Have we seen the last variant of severe combined immunodeficiency? (14602877)
2003
20
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. (12592555)
2003
21
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (12437656)
2002
22
Injection of human primary effusion lymphoma cells or associated macrophages into severe combined immunodeficient mice causes murine lymphomas. (12359765)
2002
23
Genotyping the mouse severe combined immunodeficiency mutation using the polymerase chain reaction with confronting two-pair primers (PCR-CTPP). (12221933)
2002
24
Gene therapy for severe combined immunodeficiency disease. (12192024)
2002
25
Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. (11426456)
2001
26
Defect of severe combined immunodeficiency (Scid) MPhi/DC in acquired tolerance induction following rat-into-scid xenogeneic bone marrow cell chimeras. (11267029)
2001
27
Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association. (10982022)
2000
28
Inactivation of the human fragile histidine triad gene at 3p14.2 in monochromosomal human/mouse microcell hybrid-derived severe combined immunodeficient mouse tumors. (11156420)
2000
29
Human peripheral blood lymphocyte severe combined immunodeficiency (hu-PBL SCID) models of toxoplasmosis. (11114971)
2000
30
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. (11023514)
2000
31
Disseminated BCG infection following bone marrow transplantation for X-linked severe combined immunodeficiency. (10886754)
2000
32
Spontaneous low-virulence mouse hepatitis virus infection in severe combined immunodeficiency mice. (10403451)
1999
33
Development of diffuse invasive (grade 4D) human oral squamous cell carcinoma model in severe combined immunodeficiency mice: microangioarchitectural analysis and immunohistochemical study. (10645405)
1999
34
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. (10021471)
1999
35
Ganglioside composition of a mouse brain tumor grown in the severe combined immunodeficiency (SCID) mouse. (9493174)
1998
36
Engrafted maternal T cells in human severe combined immunodeficiency: evidence for a TH2 phenotype and a potential role of apoptosis on the restriction of T-cell receptor variable beta repertoire. (9449515)
1998
37
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. (9705945)
1998
38
Over-expression of urokinase receptor in human epidermoid-carcinoma cell line (HEp3) increases tumorigenicity on chorio-allantoic membrane and in severe-combined-immunodeficient mice. (9650562)
1998
39
Retrovirus-mediated gene transfer into human CD34+38low primitive cells capable of reconstituting long-term cultures in vitro and nonobese diabetic-severe combined immunodeficiency mice in vivo. (9681421)
1998
40
B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. (9150740)
1997
41
Serial transplantation of adult T cell leukemia cells into severe combined immunodeficient mice. (8878449)
1996
42
Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes. (8956936)
1996
43
Graves' disease in severe combined immunodeficient mice. (7559863)
1995
44
T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency. (7930609)
1994
45
Sharing of a common gamma chain, gamma c, by the IL-2, IL-4, and IL-7 receptors: implications for X-linked severe combined immunodeficiency (XSCID). (7887307)
1994
46
Reduction of leaky lymphocyte clones producing immunoglobulins and thymic lymphocytic leukemia by selective inbreeding of SCID (severe combined immunodeficiency) mice. (8447219)
1993
47
Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency. (1401934)
1992
48
A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance. (1920912)
1991
49
Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency. (6610509)
1984
50
Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease. (308954)
1978

Genetic Variations for Severe Combined Immunodeficiency

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Expression for genes affiliated with Severe Combined Immunodeficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 29KEGG, 52R&D Systems, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 4Cell Signaling Technology
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Pathways related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Severe Combined Immunodeficiency

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1tyrosine4411.4IL9, IL7R, IL7, IL4, IL2RB, IL2RG
2cyclosporin a44 28 5913.3ADA, IL2, IL2RG, IL2RB, IL4, IL7
3dexamethasone44 49 28 1114.3IL2RB, IL18R1, ADA, IL7, ZAP70, RAG1
4ionomycin4411.3RAG1, IL2, IL2RB, IL7, IL7R, IL4
5thymidine44 2412.2IL15, IL9, IL2RB, ZAP70, IL18R1, IL7
6okt34411.2IL2RB, ZAP70, IL18R1, IL15, IL7, IL4
7rantes4411.2IL9, IL7, IL15, IL18R1, IL4, IL2RB
8vegf4411.2ADA, JAK3, IL18R1, IL15, IL7, IL4
9phosphatidylinositol4411.2IL7R, IL7, JAK3, ZAP70, LIG4, IL18R1
10histamine44 28 2413.2IL9, IL2RB, IL4, IL7, IL2, ADA
11cyclophosphamide44 49 1113.1IL7, IL2RB, IL15, IL2, ZAP70, IL4
12c-d4t4411.1IL7, IL4, IL9, IL15, IL2
13tacrolimus44 49 1113.1IL18R1, IL4, IL7, IL2RB, IL2, IL15
14phosphotyrosine4411.1IL7, IL7R, IL18R1, ZAP70, JAK3, IL2RB
15cytidine44 11 2413.1RAG2, ZAP70, IL21, RAG1, ADA
16il 104411.1IL15, IL7, IL4, IL2RB, IL2
17alanine4411.1LIG4, IL2RB, IL18R1, RAG1, ADA, IL15
18neopterin4411.1IL4, ADA, IL18R1, IL2RB, IL2
19genistein44 28 59 2 11 2416.1IL2, JAK3, IL7, IL2RB, IL9, ZAP70
20ctla4-ig4411.1IL15, IL7, IL2, IL2RB
21alpha-galactosylceramide4411.1IL15, IL7, IL4, IL2
22basiliximab44 1112.1IL2RB, IL2, IL7, IL15
23il-124411.0IL15, IL4, IL2, IL7
24leflunomide49 44 1113.0JAK3, IL18R1, IL15, IL2RB
25con a4411.0IL21, IL4, IL2RB, IL2
26methylcellulose4411.0IL4, IL7, IL15, IL9
2712-o-tetradecanoylphorbol 13-acetate4411.0IL7, IL2RB, RAG1, IL18R1, IL9
28infliximab44 49 1113.0IL2RB, IL4, IL15, IL18R1
29denileukin diftitox44 49 1113.0IL2RB, IL2, IL2RG
30gp 1304411.0IL18R1, IL15, JAK3, IL7R
31pge24411.0JAK3, IL2
32rapamycin4411.0IL2, IL2RB, IL7, IL15, IL18R1
33propanil4410.9IL2, IL18R1, JAK3
34daclizumab44 1111.9IL2RB, IL15, IL2
35herbimycin a44 5911.9JAK3, IL2, IL4, IL7R
36serine4410.9RAG2, IL2RB, IL18R1, JAK3, IL9
37r-il-24410.9IL2RB, IL2
38tdac4410.9IL4, IL2
39cycloheximide4410.9JAK3, IL2RB
40polyinosinic-polycytidylic acid4410.8IL2, IL4, IL15
412,5-oligoadenylate4410.8IL2RB, ADA, IL2
42etanercept44 49 1112.8IL15, IL18R1, IL2RB
43zinc44 2411.8RAG2, IL15, RAG1, LMO2, IL2RB, IL18R1
44mycophenolate mofetil44 49 1112.8JAK3, IL2, IL2RB
45lipid4410.8IL9, IL7, JAK3, ZAP70, IL18R1, IL15
46fludarabine44 1111.8ZAP70, IL2, ADA
47nitric oxide44 11 2412.7IL15, IL2RB, IL9, IL7, IL18R1, JAK3
48methacholine44 1111.7IL9, IL2RB, IL4
49ribavirin44 49 1112.5IL2, IL4, ADA
50ivig4410.3IL18R1, IL2RB, IL4

GO Terms for genes affiliated with Severe Combined Immunodeficiency

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16Gene Ontology
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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

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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet