SCID
MCID: SVR004
MIFTS: 80

Severe Combined Immunodeficiency (SCID) malady

Rare diseases, Blood diseases, Immune diseases categories
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Summaries for Severe Combined Immunodeficiency

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Severe Combined Immunodeficiency, also known as SCID, is related to gamma chain deficiency and omenn syndrome, and has symptoms including recurrent urinary infections, fever/chilling and failure to thrive/difficulties for feeding in infancy/growth delay. 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: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:65 Severe combined immunodeficiency (SCID), (also known as \"Alymphocytosis,\" \"Glanzmann?Riniker... more...

Aliases & Classifications for Severe Combined Immunodeficiency

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


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 62
scid 8 43 49
severe combined immunodeficiency disease 8 22
severe combined immunodeficiency due to adenosine deaminase deficiency 62
combined t and b cell inborn immunodeficiency 8
bubble boy disease 43


External Ids:

Disease Ontology8 DOID:627
NCIt40 C3472
MeSH35 D016511
MESH via Orphanet36 D016511
SNOMED-CT58 190994004, 31323000
ICD10 via Orphanet26 D81.0, D81.1, D81.2 D81.3, more
SNOMED-CT via Orphanet59 31323000
UMLS via Orphanet63 C0085110

Related Diseases for Severe Combined Immunodeficiency

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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 292)
idRelated DiseaseScoreTop Affiliating Genes
1gamma chain deficiency31.2JAK3, ADA, IL2, IL7R, IL2RG
2omenn syndrome30.9DCLRE1C, RAG1, RAG2
3leukemia30.7JAK3, ADA, IL2, IL7R, IL2RG, RAG1
4graft versus host disease30.6IL2, JAK3
5lymphopenia30.4IL7R, IL2, ADA, JAK3, IL2RG, ZAP70
6rheumatoid arthritis30.3JAK3, ADA, IL2, ZAP70
7hodgkin's lymphoma30.3IL2, RAG1, RAG2, ZAP70
8chronic granulomatous disease30.1ADA, JAK3
9combined cellular and humoral immune defects with granulomas30.1RAG2, RAG1
10anaplastic large cell lymphoma30.1JAK3, ZAP70
11chronic lymphocytic leukemia30.1ADA, IL2, ZAP70
12melanoma30.0ADA, IL2, IL7R, IL2RG, ZAP70
13burkitt's lymphoma29.9DCLRE1C, JAK3, ADA, IL2, IL7R, RAG1
14acute lymphocytic leukemia29.9ZAP70, RAG1, IL7R, ADA, JAK3
15t-cell leukemia29.9ADA, IL2, RAG1, RAG2, ZAP70
16inflammatory bowel disease29.8RAG2, IL2
17adenosine deaminase deficiency11.0
18hematopoietic stem cell transplantation10.7
19obesity10.6
20achondroplasia and severe combined immunodeficiency10.6
21zap70-related severe combined immunodeficiency10.6
22severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.6
23prostatitis10.5
24thyroiditis10.5
25severe combined immunodeficiency, athabascan type10.5
26lung cancer10.5
27t+ b+ severe combined immunodeficiency10.5
28reticular dysgenesis10.4
29hepatitis10.4
30myeloma10.4
31severe combined immunodeficiency with sensitivity to ionizing radiation10.4
32immunodeficiency 1510.4
33severe combined immunodeficiency, b cell-negative10.4
34arthritis10.4
35pneumonia10.4
36prostate cancer10.4
37severe combined immunodeficiency, atypical10.4
38zap-70 deficiency10.4
39immunodeficiency 810.4
40severe combined immunodeficiency due to dna-pkcs deficiency10.4
41digeorge syndrome10.3
42agammaglobulinemia10.3
43herpes simplex10.3
44multiple myeloma10.3
45t cell deficiency10.3
46immunodeficiency 2210.3
47severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.3
48immunodeficiency 1110.3
49scid, autosomal recessive, t-negative/b-positive type10.3
50hiv-110.2

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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49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Severe Combined Immunodeficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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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 UMLS62/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

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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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Severe Combined Immunodeficiency:

33
T cells, B cells, Bone, Bone marrow, Liver, Lung, Thyroid, Prostate, Skin, Testes, Tonsil, Monocytes, Myeloid, Breast, Colon, Brain, Small intestine, Endothelial, Nk cells, Pancreas, Fetal liver, Adipocyte

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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37MGI
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MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4RAG2, RAG1, IL2, ADA
2MP:00020068.2NHEJ1, IL2, IL2RG, RAG1, RAG2
3MP:00053818.0JAK3, IL2, IL2RG, RAG1, RAG2
4MP:00053908.0ADA, IL2RG, RAG1, RAG2, ZAP70
5MP:00028737.8ADA, IL7R, IL2RG, RAG1, RAG2, ZAP70
6MP:00053887.7ADA, IL2, IL2RG, RAG1, RAG2, ZAP70
7MP:00053767.4NHEJ1, ADA, IL2, IL2RG, RAG1, RAG2
8MP:00053846.8NHEJ1, DCLRE1C, JAK3, ADA, IL2, IL7R
9MP:00053975.7CD3D, NHEJ1, DCLRE1C, JAK3, ADA, IL2
10MP:00053875.7ADA, JAK3, DCLRE1C, NHEJ1, IL2, IL7R

Publications for Severe Combined Immunodeficiency

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52PubMed
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Articles related to Severe Combined Immunodeficiency:

(show top 50)    (show all 722)
idTitleAuthorsYear
1
Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization. (23790094)
2013
2
Newborn screening for severe combined immunodeficiency: an opportunity for intervention. (23897312)
2013
3
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
4
Left ventricular aneurysm in a child with severe combined immunodeficiency syndrome. (19853138)
2009
5
The evolution of gene therapy in X-linked severe combined immunodeficiency. (19492655)
2009
6
Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant. (19366689)
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
Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. (16732583)
2008
10
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. (17512212)
2007
11
Matched unrelated bone marrow transplant for severe combined immunodeficiency. (17917025)
2007
12
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
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
Usefulness of severe combined immunodeficiency (scid) and inbred mice for studies of cysticercosis and echinococcosis. (16338168)
2006
15
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
16
Treatment of an infant with X-linked severe combined immunodeficiency (SCID-X1) by gene therapy in Australia. (15865589)
2005
17
In vitro cultured islet-derived progenitor cells of human origin express human albumin in severe combined immunodeficiency mouse liver in vivo. (15579634)
2004
18
Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. (14760277)
2004
19
Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency. (14985489)
2004
20
An in vivo model of autoimmune post-coxsackievirus B3 myocarditis in severe combined immunodeficiency mouse. (14613869)
2003
21
Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome. (12621496)
2003
22
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
23
Overexpression of urokinase-type plasminogen activator in human gastric cancer cell line (AGS) induces tumorigenicity in severe combined immunodeficient mice. (11856478)
2002
24
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
25
Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. (11897040)
2002
26
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (12437656)
2002
27
Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells. (12014808)
2002
28
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
29
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. (11668621)
2001
30
Cure of Burkitt's lymphoma in severe combined immunodeficiency mice by T cells, tetravalent CD3 x CD19 tandem diabody, and CD28 costimulation. (10969772)
2000
31
Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency. (9885222)
1999
32
Estimation of the prevalence of severe combined immunodeficiency disease in UK Arab horses as determined by a DNA-based test. (10452394)
1999
33
Lineage switch in childhood leukemia with monosomy 7 and reverse of lineage switch in severe combined immunodeficient mice. (10340398)
1999
34
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
35
Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. (9797872)
1998
36
Ganglioside composition of a mouse brain tumor grown in the severe combined immunodeficiency (SCID) mouse. (9493174)
1998
37
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
38
Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity. (9768755)
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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Sources:
2BioGPS, 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:
50PathCards, 54R&D Systems, 53QIAGEN, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 55Reactome, 5Cell Signaling Technology
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Pathways related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8IL2RG, IL7R
29.8ADA, RAG2
3
Show member pathways
Non-homologous end joining38
DNA damage NHEJ mechanisms of DSBs repair60
9.8DCLRE1C, NHEJ1
4
Show member pathways
9.7JAK3, IL2RG
5
Show member pathways
9.7JAK3, IL2RG
69.7JAK3, IL2RG
79.7IL2RG, JAK3
89.4CD3D, IL2
99.3ZAP70, CD3D
109.3ZAP70, CD3D
11
Show member pathways
9.3ZAP70, CD3D
12
Show member pathways
9.3ZAP70, CD3D
13
Show member pathways
TCR signaling in naive CD8+ T cells38
9.3CD3D, ZAP70
149.3CD3D, ZAP70
15
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.2IL2, JAK3, IL2RG
16
Show member pathways
IL2 signaling events mediated by STAT538
9.2IL2RG, IL2, JAK3
17
Show member pathways
9.2IL2RG, JAK3, IL2
18
Show member pathways
IL-2 Signaling pathway38
9.2IL2RG, JAK3, IL2
19
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.1CD3D, IL2RG, IL2
20
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.1IL2, IL2RG, CD3D
21
Show member pathways
9.1IL2, CD3D, IL2RG
229.0IL2, ZAP70, IL2RG
23
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.9RAG1, IL7R, RAG2
24
Show member pathways
8.9CD3D, ZAP70, JAK3
258.9IL7R, IL2, IL2RG, JAK3
26
Show member pathways
8.9IL7R, IL2, JAK3, IL2RG
27
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.9JAK3, IL2, IL2RG, IL7R
28
Show member pathways
Type III interferon signaling38
8.9IL2, IL7R, JAK3, IL2RG
29
Show member pathways
8.9IL7R, IL2RG, IL2, JAK3
30
Show member pathways
8.9JAK3, IL2, IL7R, IL2RG
31
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
8.8IL2, ZAP70, CD3D
32
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.8CD3D, IL2, ZAP70
33
Show member pathways
8.7JAK3, IL2, IL2RG, CD3D
348.7JAK3, CD3D, IL2RG, IL2
35
Show member pathways
8.5ZAP70, IL2, CD3D, IL2RG
368.5IL2, ZAP70, RAG1
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 pathway60
G protein signaling N RAS regulation pathway60
8.1JAK3, IL2, IL2RG, ZAP70, CD3D
40
Show member pathways
7.7IL7R, JAK3, IL2RG, ZAP70, IL2, CD3D
41
Show member pathways
7.7IL2, IL2RG, CD3D, IL7R, JAK3, ZAP70
426.4RAG2, DCLRE1C, CD3D, IL2RG, RAG1, ZAP70

Compounds for genes affiliated with Severe Combined Immunodeficiency

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 3BitterDB
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Compounds related to Severe Combined Immunodeficiency according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1busulfan45 51 1112.2ADA, DCLRE1C
2denileukin diftitox45 51 1112.0IL2, IL2RG
3pentostatin45 61 29 1113.0IL2, ADA
4ranitidine45 29 24 1112.9ADA, IL2
52-chlorodeoxyadenosine459.9IL2, ADA
62,5-oligoadenylate459.8IL2, ADA
7propanil459.8JAK3, IL2
8ribavirin45 51 1111.7IL2, ADA
9mycophenolate mofetil45 51 1111.6IL2, JAK3
10neopterin459.6ADA, IL2
11neomycin459.6IL2, ADA
12pyrimidine45 2410.6ADA, JAK3
13okt3459.6IL2, ZAP70
14herbimycin a45 6110.5IL7R, IL2, JAK3
15probenecid29 45 61 51 1113.5RAG1, RAG2
16fludarabine45 51 1111.4ZAP70, IL2, ADA
17phosphotyrosine459.3ZAP70, IL7R, JAK3
18caffeine45 29 3 51 24 1114.3ADA, RAG1, RAG2
19cyclosporin a45 29 6111.2IL2RG, IL2, ADA, JAK3
20ionomycin459.1RAG1, IL7R, IL2
21rituximab45 51 1111.0ZAP70, IL2
22genistein45 29 61 3 24 1114.0ZAP70, IL2, JAK3
23cytidine45 24 1110.7ZAP70, RAG2, RAG1, ADA
24dexamethasone45 51 29 1111.5ZAP70, RAG1, IL2, ADA
25tyrosine458.5JAK3, IL2, IL7R, IL2RG, ZAP70

GO Terms for genes affiliated with Severe Combined Immunodeficiency

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Sources:
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:0098979.5IL2RG, IL7R, ADA
2T cell receptor complexGO:0421019.0CD3D, ZAP70

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1interleukin-7-mediated signaling pathwayGO:03811110.2IL7R, IL2RG
2positive regulation of T cell differentiation in thymusGO:03308910.1IL7R, ADA
3interleukin-4-mediated signaling pathwayGO:03577110.0IL2RG, JAK3
4positive regulation of alpha-beta T cell differentiationGO:0466389.8ADA, ZAP70
5positive regulation of calcium-mediated signalingGO:0508509.7ZAP70, ADA
6positive regulation of B cell proliferationGO:0308909.7IL2, ADA
7negative regulation of inflammatory responseGO:0507289.6IL2, ADA
8pre-B cell allelic exclusionGO:0023319.6RAG2, RAG1
9positive thymic T cell selectionGO:0450599.6ZAP70, CD3D
10V(D)J recombinationGO:0331519.5RAG1, RAG2
11nucleic acid phosphodiester bond hydrolysisGO:0903059.5DCLRE1C, RAG1
12response to ionizing radiationGO:0102129.5NHEJ1, DCLRE1C
13T cell activationGO:0421109.4ADA, ZAP70
14T cell differentiation in thymusGO:0330779.4RAG1, RAG2
15T cell homeostasisGO:0430299.4RAG1, JAK3
16DNA recombinationGO:0063109.2NHEJ1, DCLRE1C, RAG1
17negative regulation of thymocyte apoptotic processGO:0702449.2JAK3, ADA, RAG1
18adaptive immune responseGO:0022509.0ZAP70, RAG1
19B cell differentiationGO:0301838.4NHEJ1, DCLRE1C, JAK3, RAG1, RAG2
20T cell differentiationGO:0302178.4CD3D, ZAP70, IL7R, IL2, NHEJ1
21immune responseGO:0069558.2ZAP70, RAG1, IL2RG, IL7R, IL2

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:0049179.5IL2RG, IL7R
2non-membrane spanning protein tyrosine kinase activityGO:0047159.4ZAP70, JAK3

Products for genes affiliated with Severe Combined Immunodeficiency

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  • Antibodies
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Sources for Severe Combined Immunodeficiency

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet