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SCID
MCID: SVR004

Severe Combined Immunodeficiency malady
1 drug, 167 genes, 23 tissues, 997 related diseases, 27 phenotypes, 261 articles, clinical trials.

Summaries for Severe Combined Immunodeficiency

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6Disease Ontology, 30NIH Rare Diseases, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: 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)30

MalaCards: Severe Combined Immunodeficiency, also known as SCID, is related to immunodeficiency and gamma chain deficiency. An important gene associated with Severe Combined Immunodeficiency is IL2RG (interleukin 2 receptor, gamma), and among its related pathways are Primary immunodeficiency and Jak-STAT signaling pathway. The drug pegademase bovine and the compounds ivig and sp 600125 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, small intestine and colon, and related mouse phenotypes are respiratory system and craniofacial.

Disease Ontology: 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.6

Wikipedia: Severe combined immunodeficiency (SCID), (also known as \"Alymphocytosis,\" \"Glanzmann–Riniker...44 more...

Aliases & Descriptions for Severe Combined Immunodeficiency

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6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH
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Aliases & Descriptions:

severe combined immunodeficiency 6 7 30 8 32 43
scid 6 7 30
severe combined immunodeficiency disease (disorder) 6
combined t and b cell inborn immunodeficiency 6
bubble boy disease 30

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Related Diseases for Severe Combined Immunodeficiency

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13GeneCards, 14GeneDecks
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Diseases related to severe combined immunodeficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 994)
idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency39.3CIITA, ZAP70, LCK, CD28, CD4, CD40LG
2gamma chain deficiency38.2KITLG, LMO2, CFP, JAK1, AR, IL13
3adenosine deaminase deficiency36.9BCL2, PNP, AHCY, ADA
4omenn syndrome35.0RAG2, RAG1, LIG4, IL10, IL1RN, IL2RG
5severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive33.4CD3D, CD3E, PTPRC
6mhc class ii deficiency32.2RFX1, RFX5, RFXANK, RFXAP, CIITA
7autoimmune thyroiditis31.6CIITA, CD40, ITGAL, IL2RA, IL4, IFNG
8rheumatoid arthritis31.4CIITA, CD40, IL10, IL1B, IL1RN, IL2
9arthritis31.3IL17A, IL1B, IL6, TNFRSF1A, TNFSF11, PLAUR
10multiple myeloma31.2CD19, ITGA4, IL6, TNFSF11, ABCB1
11agammaglobulinemia30.9CD40LG, CD40, IL2, IL4, CXCL12, CXCR4
12bare lymphocyte syndrome30.8RFX1, RFX5, RFXANK, RFXAP, CIITA
13artemis deficiency30.8RAG2, RAG1, XRCC4, DCLRE1C, PRKDC
14hepatitis30.7SELP, IL2RB, IFNB1, TNFRSF1A, LTF, THPO
15hodgkin's lymphoma30.3SELP, RAG2, RAG1, BCL2, BCL6, ZAP70
16chronic granulomatous disease30.2CD40LG, IL4R, CCR1, IFNG, CORO1A, LTF
17lymphopenia30.2RAG2, RAG1, CIITA, ZAP70, LCK, CD28
18adult t-cell leukemia30.1IL2RA, TRB@, PTHLH
19subacute thyroiditis29.9TPO, TSHR, TG
20malaria29.8CD40LG, IL10, IL4, IL4R, IFNG, NOS2
21t-cell leukemia29.8LMO2, MYC, RAG2, RAG1, BCL2, ZAP70
22short stature29.8FMR1, AR, INS, IL2RG, IGFBP1, IGFBP2
23hypothyroidism29.7IFNB1, TPO, TSHR, TG, DPP4
24burkitt's lymphoma29.5MYC, RAG1, BCL2, BCL6, ZAP70, LCK
25graft versus host disease29.4CD28, ITGAL, IL10, IL13, IL15, IL1R1
26chronic myeloid leukemia29.3KITLG, SELP, MYC, BCL2, CD34, FLT3
27non-hodgkin lymphoma29.1KITLG, MYC, RAG1, BCL2, BCL6, MUC16
28acute lymphoblastic leukemia29.1KITLG, LMO2, RAG1, BCL2, BCL6, ZAP70
29cerebral malaria29.0SELP, IL10, IL1B, IL1R1, IL1RN, IFNG
30hypercalcemia28.8IL1B, IL2, IL2RB, IL3, IL6, IGF1
31myelodysplastic syndrome28.7KITLG, CD34, FLT3LG, FLT3, FHIT, IL3
32b-cell lymphomas28.4MYC, BCL2, BCL6, CIITA, ZAP70, BAX
33childhood leukemia28.3BCL2, BAX, XRCC4, CD34, IL2RA, IL3
34pancreatic cancer28.1VEGFA, KDR, MMP14, FHIT, CASP3, PTHLH
35plasmacytoma28.1VEGFA, MYC, BCL2, BCL6, CIITA, CD27
36acute t cell leukemia28.1LMO2, CD7, CASP3, TRB@, NOTCH1
37asthma27.9IL13, IL18R1, IL4, IL5
38myelokathexis27.7CXCL12, CXCR4, CSF2, CSF3
39multiple sclerosis27.6CD40, IL1B, IL1RN, IL2RA, IL4R, IL7R
40acute graft versus host disease27.5IL10, IL15, IL1R1, IL1RN, IL2, IL2RA
41combined immunodeficiency27.5LRRC2, RFX5, RFXANK, RFXAP, KITLG, PCNA
42renal cell carcinoma27.2PCNA, SELP, VHL, VEGFA, KDR, CIITA
43primary effusion lymphoma27.1MYC, BCL6, IL7
44breast cancer26.9VEGFA, LIG4, KDR, BCL2, XRCC4, MMP2
45cryptococcosis26.9CD4, CD40LG, IL10, IL6, IFNG
46alopecia areata26.8CIITA, CD40, INS, IL10, IL1B, IL1R1
47acute promyelocytic leukemia26.8MYC, BCL2, BAX, ITGAL, FLT3, IL3
48toxic shock syndrome26.5CIITA, CD4, CD40LG, FCER2, IL10, IL1B
49alopecia26.4KITLG, CIITA, CD4, CD34, CD40, FOXN1
50anaplastic large cell lymphoma26.4PCNA, MYC, RAG2, BCL2, BCL6, ZAP70

Graphical network of the top 20 diseases related to severe combined immunodeficiency:



Graphical network of diseases related to severe combined immunodeficiency

Clinical Features for Severe Combined Immunodeficiency

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Drugs & Therapeutics for Severe Combined Immunodeficiency

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 21LifeMap Discovery™, 43UMLS, 28NDF-RT
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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 UMLS/NDF-RT:

43 28 pegademase bovine

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-Cell-Based therapeutic approaches for severe combined immunodeficiency:
Gene modification of CD34+ stem cells to treat severe combined immunodeficiency disease
Embryonic/Adult Cultured Cells Related to severe combined immunodeficiency:
Hematopoietic stem cells (Umbilical Cord), PMIDs: 19179314
Peripheral blood/mobilized hematopoietic stem cells, PMIDs: 19179314

Genetic Tests for Severe Combined Immunodeficiency

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Anatomical Context for Severe Combined Immunodeficiency

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21LifeMap Discovery™, 22MalaCards
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MalaCards organs/tissues related to severe combined immunodeficiency:

22
Bone marrow, Small intestine, Colon, Liver, Lung, Thyroid, Breast, Skin, Prostate, Myeloid, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Endothelial, Fetal liver, Fetal lung, Fetal thyroid

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

Embryonic and adult cells/anatomical compartments related to severe combined immunodeficiency:
id Organ / Tissue -> Anatomical Compartment -> Cell Relevance
1 Blood -> Peripheral Blood -> B-cell Progenitor Cells Affected by disease
2 Bone -> Bone Marrow -> Hematopoietic Stem Cells Affected by disease, potential therapeutic candidate
3 Blood -> Peripheral Blood -> Natural Killer Cells Affected by disease, potential therapeutic candidate
4 Blood -> Peripheral Blood -> T-Cell Progenitors Affected by disease, potential therapeutic candidate

Phenotypes for genes affiliated with Severe Combined Immunodeficiency

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25MGI
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MGI Mouse Phenotypes related to severe combined immunodeficiency:

25 (show all 27)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:000538810.8SELP, RAG2, RAG1, BCL6, IL2RG, HOXB4
2craniofacial phenotypeMP:000538210.6KITLG, RAG2, LIG4, XRCC4, ITGA4, GRB2
3endocrine/exocrine gland phenotypeMP:000537910.5XRCC4, CD40LG, FOXN1, FMR1, INSL3, IL2
4embryogenesis phenotypeMP:000538010.0VHL, LMO2, MYC, LCK, CD247, ITGA4
5other phenotypeMP:00053959.7KDR, CD40LG, MMP14, IL13, IL2, TNFRSF1A
6liver/biliary system phenotypeMP:00053709.4RFX5, VHL, VEGFA, LMO2, RAG2, RAG1
7renal/urinary system phenotypeMP:00053679.4SELP, VHL, LMO2, RAG1, BCL2, BAX
8hematopoietic system phenotypeMP:00053978.6RFX5, PCNA, VHL, LMO2, RAG2, RAG1
9growth/size phenotypeMP:00053788.4KITLG, SELP, VHL, LMO2, MYC, RAG2
10immune system phenotypeMP:00053878.2RFX5, SELP, LMO2, RAD54L, LIG4, KDR
11integument phenotypeMP:00107718.2KITLG, SELP, VHL, LMO2, MYC, RAG2
12reproductive system phenotypeMP:00053897.9VHL, VEGFA, RAG2, LIG4, BCL6, XRCC4
13normal phenotypeMP:00028737.9VHL, VEGFA, MYC, RAG2, RAG1, KDR
14nervous system phenotypeMP:00036317.9KITLG, SELP, LMO2, MYC, RAG2, RAG1
15no phenotypic analysisMP:00030127.8PCNA, VEGFA, MYC, CD4, CD5, INS
16hearing/vestibular/ear phenotypeMP:00053777.6KITLG, MYC, RAG1, BCL2, BAX, GRB2
17digestive/alimentary phenotypeMP:00053817.3KITLG, VHL, VEGFA, MYC, RAG2, RAG1
18behavior/neurological phenotypeMP:00053866.8SELP, RAG2, RAG1, LIG4, KDR, JAK1
19adipose tissue phenotypeMP:00053756.7MYC, BCL2, AR, INS, IL1R1, IL6
20skeleton phenotypeMP:00053906.6KITLG, VHL, VEGFA, MYC, RAG2, KDR
21vision/eye phenotypeMP:00053916.2KITLG, SELP, VEGFA, RAG1, KDR, BCL2
22mortality/agingMP:00107685.8RFX1, KITLG, SELP, VHL, VEGFA, LMO2
23tumorigenesisMP:00020065.8KITLG, VHL, LMO2, MYC, RAG2, RAG1
24muscle phenotypeMP:00053695.0VHL, VEGFA, MYC, KDR, BCL2, BCL6
25cellular phenotypeMP:00053844.3KITLG, PCNA, SELP, VHL, VEGFA, LMO2
26cardiovascular system phenotypeMP:00053854.3RFX5, KITLG, SELP, VHL, VEGFA, LMO2
27homeostasis/metabolism phenotypeMP:00053763.5KITLG, SELP, VHL, VEGFA, MYC, RAG2

Publications for genes affiliated with Severe Combined Immunodeficiency

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35PubMed
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Articles related to severe combined immunodeficiency:

(show top 50)    (show all 261)
idTitleAuthorsYearAffiliating Genes
1Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. (19097825)Shiow L.R.... Puck J.M.2009CORO1A
2The therapeutic use of osmotic minipumps in the severe combined immunodeficiency (SCID) mouse model for rheumatoid arthritis. (18339663)Knedla A.... Neumann E.2009IL1R1, IL10, IL1RN
3RNA silencing and HIV: a hypothesis for the etiology of the severe combined immunodeficiency induced by the virus. (18786256)Ludwig L.B.2008FMR1, IL2RG, IL9R
4Roles of osteoclasts and bone-derived IGFs in the survival and growth of human breast cancer cells in human adult bone implanted into nonobese diabetic/severe combined immunodeficient mice. (18307047)Sangai T.... Ochiai A.2008TNFSF11
5Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report (19099832)Zhang W.X.... Zhao W.2008ADA
6Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency. (16680939)Cohen L.... Turvey S.E.2006IL2RG
7Down regulation of 3p genes, LTF, SLC38A3 and DRR1, upon growth of human chromosome 3-mouse fibrosarcoma hybrids in severe combined immunodeficiency mice. (16432833)Kholodnyuk I.D.... Imreh S.2006LTF, SLC38A3, FAM107A
8Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency (16527199)Le Deist F.... Fischer A.2006RAG1
9Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency. (15615257)Jo E.K.... Kumaki S.2004IL7R
10A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. (15108287)Ginn S.L.... Alexander I.E.2004IL2RA, IL2RG
11Combined treatment of Bcl-2 antisense oligodeoxynucle otides (G3139), p-glycoprotein inhibitor (PSC833), and sterically stabilized li posomal doxorubicin suppresses growth of drug-resistant growth of drug-resistan t breast cancer in severely combined immunodeficient mice. (12822513)Lopes de Menezes D.E.... Mayer L.D.2003BCL2, ABCB1
12Thrombopoietin is a major limiting factor for selective outgrowth of human umbilical cord blood cells in non-obese diabetic/severe combined immunodeficient recipient mice. (12930398)Verstegen M.M.... Wagemaker G.2003THPO
13Developmental patterns of mucin gene expression in human fetal small intestinal xenografts maintained in severe-combined immunodeficient mice. (12646731)Buisine M.P.... Savidge T.C.2003MUC7
14Effect 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)Ngo T.H.... Aronson W.J.2003IGFBP2, IGFBP1
15Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. (12592555)Kobayashi N.... Komiyama A.2003DCLRE1C
16Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells. (12014808)Hartnett B.J.... Felsburg P.J.2002IL2, IL4, IL15
17Clonotypic myeloma cells able to xenograft myeloma to nonobese diabetic severe combined immunodeficient mice copurify with CD34 (+) hematopoietic progenitors. (12374689)Pilarski L.M.... Belch A.R.2002CSF3
18Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. (11897040)CastaA+os-VAclez E.... Biberfeld P.2002BCL6
19A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (12437656)Cossu F.... Dokal I.2002DKC1
20Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease. (12224067)Li L.... Cowan M.J.2002DCLRE1C
21Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (10794430)NiemeLa J.E.... Hsu A.P.2000IL2RG
22Gene therapy for severe combined immunodeficiency caused by adenosine deaminase deficiency: improved retroviral vectors for clinical trials. (10202239)Onodera M.... Blaese R.M.1999ADA
23Engraftment of human myelodysplastic syndrome derived cell line in transgenic severe combined immunodeficient (TG-SCID) mice expressing human GM-CSF and IL-3. (9714520)Kim D.K.... Nakauchi H.1998IL3
24Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. (9753072)Bozzi F.... Candotti F.1998JAK3, INSL3
25Epithelial glycoprotein-2 expression is subject to regulatory processes in epithelial-mesenchymal transitions during metastases: an investigation of human cancers transplanted into severe combined immunodeficient mice. (9873999)JojoviA8 M.... Schumacher U.1998EPCAM
26B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. (9150740)Jones A.M.... Kinnon C.1997IL2RG
27Treatment of Philadelphia leukemia in severe combined immunodeficient mice by combination of cyclophosphamide and bcr/abl antisense oligodeoxynucleotides. (8998181)Skorski T.... Calabretta B.1997ABL1
28Interleukin-6 overexpression cannot generate serious disorders in severe combined immunodeficiency mice. (9000479)Katsume A.... Ohsugi Y.1997IL6
29Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. (8605322)Candotti F.... Blaese R.M.1996IL2, IL4, IL15
30Interleukin-4 enhances the survival of severe combined immunodeficient mice engrafted with human B-cell precursor leukemia. (8639851)Mitchell P.L.... Millar J.L.1996IL4
31Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. (8931706)Pannicke U.... Schwarz K.1996PNP
32Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (7668284)Pepper A.E.... Puck J.M.1995IL2, IL2RG
33Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15. (7803808)Matthews D.J.... Ferrara P.1995IL2, IL4, IL13
34In vivo sequestration of Plasmodium falciparum-infected human erythrocytes: a severe combined immunodeficiency mouse model for cerebral malaria. (7650476)Willimann K.... Imhof B.A.1995ICAM1
35Preferential utilization of the immature JH segment and absence of somatic mutation in the CDR3 junction of the Ig H chain gene in three X-linked severe combined immunodeficiency patients. (7865464)Minegishi Y.... Yata J.1994IL2RA, IL2RB, IL7R
36Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. (7937790)DiSanto J.P.... de Saint Basile G.1994IL2RA, IL2, IL4
37IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. (7829104)Henthorn P.S.... Felsburg P.J.1994IL2RB
38Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. (7829103)Deschenes S.M.... Henthorn P.S.1994AR, PRKG1, IL2RB
39Studies of human peripheral blood mononuclear cells (PBMC) from patients with subacute thyroiditis in severe combined immunodeficient (SCID) mice: less production of human interferon gamma than that seen for Graves' disease. (7835825)Yoshikawa N.... VolpAc R.1994IFNG
40Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. (8202712)Elder M.E.... Parslow T.G.1994ZAP70
41Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with CD34+ selected autologous peripheral blood cells transduced with a human ADA gene. Amendment to clinical research project, Project 90-C-195, January 10, 1992. (7691188)Blaese R.M.... Berger M.1993ADA
42A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein. (8242080)Gossage D.L.... Markert M.L.1993ADA
43Reduction of leaky lymphocyte clones producing immunoglobulins and thymic lymphocytic leukemia by selective inbreeding of SCID (severe combined immunodeficiency) mice. (8447219)Inohara H.... Matsunaga T.1993CD40LG
44Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. (8462096)Noguchi M.... Leonard W.J.1993IL2RG
45Expression of the metalloproteinase matrilysin in DU-145 cells increases their invasive potential in severe combined immunodeficient mice. (8417833)Powell W.C.... Bowden G.T.1993MMP2, MMP7
46Severe combined immunodeficiencies. (1554500)Fischer A.1992ADA
47Epstein-Barr virus induced lymphoproliferative tumors in severe combined immunodeficient mice are oligoclonal. (1309425)Pisa P.... Fox R.I.1992COLQ
48Novel 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)Hirschhorn R.... Borkowsky W.1992ADA
49Severe combined immunodeficient (SCID) mice: a model for investigating human thyroid autoantibody synthesis. (2015711)Macht L.... Rees Smith B.1991TPO, TG
50An in vivo model of somatic cell gene therapy for human severe combined immunodeficiency. (1848369)Ferrari G.... Bordignon C.1991ADA

Expression for genes affiliated with Severe Combined Immunodeficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Severe Combined Immunodeficiency

Pathways for genes affiliated with Severe Combined Immunodeficiency

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20KEGG, 36QIAGEN, 37R&D Systems, 38Reactome, 41Thomson Reuters, 3Cell Signaling Technology, 10EMD Millipore
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Pathways related to severe combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 192)
idPathwayScoreTop Affiliating Genes
1Primary immunodeficiency2010.8RFX5, RFXANK, RFXAP, RAG2, CIITA, CD3D
2Jak-STAT signaling pathway2010.8MYC, JAK1, IL10, IL13, IL15, IL2
3Measles2010.7JAK1, CD28, CD3D, CD3G, CD3E, IL13
4RAR-Gamma-RXR-Alpha Degradation3610.6IL15, IL2, IL21, IL3, IL7, IL9
5IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types3710.6BCL2, CD3D, IL15, IL2, IL2RA, IL2RB
6ICos-ICosL Pathway in T-Helper Cell3610.4ZAP70, LCK, CD28, CD3D, CD3G, CD4
7IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types3710.2IL13, IL1B, IL2RG, IL4, IL4R, IL5
8Regulation of eIF4 and p70S6K3610.2BAX, CD4, ITGA4, ITGAL, GRB2, IL13
9T cell receptor signaling pathway2010.2ZAP70, LCK, CD28, CD3D, CD3G, CD4
10NFAT Signaling and Lymphocyte Interactions3610.2BCL2, BAX, CD3D, CD3G, CD4, CD3E
11Immune System3810.1CIITA, JAK1, CD34, CD40, IL1R1, IL2RG
12Intestinal immune network for IgA production2010.1CD28, CD40LG, CD40, ITGA4, IL10, IL15
13Cytokine Network3610.1IL10, IL13, IL15, IL1B, IL2, IL3
14Immune response_IL-22 signaling pathway4110.1MYC, BCL2, JAK1, CD28, CD4, IL2
15Lymphocyte Signaling310.1KITLG, RAG1, BCL6, CIITA, ZAP70, LCK
16Immune response IL-22 signaling pathway1010.0MYC, BCL2, JAK1, CD28, CD4, IL2
17PGC1Alpha Pathway3610.0BCL2, BAX, CD4, IL13, IL15, IL1B
18IL-6 Pathway369.7BAX, GRB2, IL10, IL3, IL4, IL5
19Endothelin-1 Signaling Pathway369.6MYC, FLT3, GRB2, IL10, IL13, IL1B
20Akt Signaling369.6CD28, CD4, ITGAL, FLT3, IL10, IL15
21Th17 Differentiation379.6JAK1, CD28, CD4, CD3E, IL17A, IL1B
22JNK Pathway369.5KITLG, KDR, BCL2, BAX, CD4, FLT3
23ERK Signaling369.4KITLG, MYC, ZAP70, CD3D, CD3G, CD3E
24NFAT in Immune Response369.3KITLG, KDR, ZAP70, LCK, CD28, CD3D
25Rheumatoid arthritis209.3VEGFA, CD28, ITGAL, IL15, IL17A, IL1B
26all-trans-Retinoic Acid Signaling in Brain369.2BCL2, BAX, IL10, IL13, IL15, IL1B
27MIF Mediated Glucocorticoid Regulation369.2BCL2, BAX, IL10, IL13, IL15, IL1B
28PEDF Induced Signaling369.2BCL2, BAX, IL10, IL13, IL15, IL1B
29Hematopoietic cell lineage209.2KITLG, CD3D, CD3G, CD4, CD34, CD3E
30Tuberculosis209.1RFX5, RFXANK, RFXAP, BCL2, CIITA, BAX
31Glucocorticoid Receptor Signaling369.0BCL2, BAX, CD4, IL10, IL13, IL15
32Pancreatic Adenocarcinoma369.0KITLG, KDR, BCL2, JAK1, MMP2, MMP7
33MIF Regulation of Innate Immune Cells369.0BCL2, BAX, IL10, IL13, IL15, IL1B
34Molecular Mechanisms of Cancer369.0KITLG, MYC, KDR, BCL2, BAX, JAK1
35SOCS Pathway368.9BCL2, BAX, JAK1, CD4, INS, IL10
36Pathways in cancer208.9VEGFA, MYC, BCL2, BAX, JAK1, MMP2
37p53 Mediated Apoptosis368.9KITLG, KDR, BCL2, BAX, AREG, IL2
38Telomerase Components in Cell Signaling368.9KITLG, MYC, KDR, AREG, IL2, IL3
39Malaria208.5SELP, CD40LG, CD40, ITGAL, IL10, IL1B
40Cytokine-cytokine receptor interaction208.5KITLG, VEGFA, KDR, CD27, CD40LG, CD40
41Rho Family GTPases368.4KITLG, KDR, BCL2, BAX, ITGA4, ITGAL
42STAT3 Pathway368.3MYC, BCL2, BAX, CD28, CD4, IL10
43MAPK Signaling368.3KITLG, MYC, KDR, BCL2, ITGA4, ITGAL
44Tec Kinases Signaling368.2KITLG, BCL2, BAX, JAK1, CD28, CD3D
45TGF-Beta Pathway368.2KITLG, KDR, BCL2, BAX, CD4, AREG
46PAK Pathway368.2KITLG, KDR, BCL2, BAX, AREG, IL10
47MAPK Family Pathway368.1KITLG, KDR, BCL2, BAX, CD4, AREG
48JAK-STAT Pathway368.1KITLG, MYC, KDR, BCL2, BAX, JAK1
49Antioxidant Action of Vitamin-C367.5KITLG, KDR, BCL2, BAX, CD28, CD4
50p38 Signaling367.4KITLG, KDR, BCL2, ZAP70, LCK, BAX

Compounds for genes affiliated with Severe Combined Immunodeficiency

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32Novoseek , 42Tocris Bioscience, 34PharmGKB, 9DrugBank, 18HMDB
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Compounds related to severe combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 441)
idCompoundScoreTop Affiliating Genes
1ivig32 10.7IL18R1, IL3, CCR5, IFNB1, TG, CSF1
2sp 60012532 42 11.7CD40, IL13, IL17A, CASP3, TP53
3cyclophosphamide32 34 9 9 13.7BCL6, ITGA4, ITGAL, FLT3LG, TRB@, LTF
4methylcellulose32 10.5KITLG, CD34, FLT3LG, FLT3, IL15, IL3
5h2o232 10.4KITLG, ZAP70, MUC16, LCK, JAK1, CD40
6dmso32 10.3KITLG, SELP, RAG2, MMP7, CCR1, TNFRSF1A
7hyaluronic acid32 18 11.1MYC, MUC16, ITGAL, IL13, ENG, PNP
8rapamycin32 42 11.0KITLG, VHL, VEGFA, KDR, FMR1, AR
9bromodeoxyuridine32 10.0KITLG, PCNA, MYC, BCL6, CIITA, MMP14
10okt332 10.0ZAP70, LCK, CD40LG, FCER2, IL10, IL15
11pixy32132 9.9KITLG, FLT3LG, FLT3, IL3, IL6, TIMP1
12endotoxin32 9.9CIITA, CD40, ITGAL, IL18R1, IL1R1, IL2RB
13rituximab32 34 9 9 12.8BCL2, BCL6, ZAP70, CD40LG, CD40, CD38
14leflunomide32 9 9 11.8PCNA, LCK, IL13, IL15, IL18R1, IL1R1
15p00232 9.8MMP14, MMP7, MLH1, MKI67, IL15, IL17A
16heparin32 9 18 9 12.7KITLG, ZAP70, LCT, CFP, CD4, ITGA4
17epinephrine32 9 18 9 12.5KITLG, SELP, MMP2, AREG, INS, IL1RN
18tarc32 9.5CD4, ITGA4, IL10, IL13, IL4, IL4R
19fmlp32 9.4SELP, ITGA4, ITGAL, FCER2, IL13, IL1B
20proline32 9.3VHL, CIITA, MUC7, LCK, JAK1, CD28
21il 1032 9.2CD40, IL10, IL13, IL15, IL1B, IL1R1
22bleomycin32 9 9 11.2IL13, IL2RA, IL4, IL5, CCL2, IGF1
23infliximab32 9 9 11.1VEGFA, ITGA4, IL10, IL15, IL17A, IL18R1
24imatinib32 34 9 9 12.1KITLG, VEGFA, MYC, KDR, BCL2, BCL6
25mip 1alpha32 9.1IL10, IL13, IL1B, IL3, IL4, IL6
26aspirin32 34 18 11.1KITLG, PCNA, SELP, CD40LG, ITGAL, MMP2
27progesterone32 42 9 18 9 13.0PCNA, BCL2, MUC16, CD34, MMP14, MMP7
28etanercept32 9 9 11.0IL10, IL15, IL17A, IL18R1, IL1B, IL1R1
29il-1232 9.0CD40LG, IL10, IL13, IL15, IL1B, IL1R1
30n acetylcysteine32 9.0PCNA, SELP, KDR, JAK1, CD40, MMP2
31gm-csf32 8.9KITLG, VEGFA, IL10, IL13, IL15, IL1B
32glutamate32 8.9PCNA, LIG4, KDR, LCK, CD4, CD40
33polysaccharide32 8.9KITLG, SELP, KDR, CFP, CD4, CD40LG
34triptolide32 8.7VEGFA, BCL2, BAX, CD40, IL1B, IL2
35etoposide32 42 9 9 11.7PCNA, MYC, BCL2, BAX, ITGAL, MMP2
36ly29400232 8.5VHL, VEGFA, MMP14, MMP2, GRB2, IL10
37cysteine32 8.5PCNA, SELP, RAG1, KDR, MUC7, LCK
38herbimycin a32 42 9.3KITLG, MYC, LCK, CD28, CD4, CD40LG
39simvastatin32 34 42 9 18 9 13.3KITLG, SELP, VEGFA, KDR, CIITA, CD40
40tgf beta132 8.2KITLG, KDR, CD38, MMP14, MMP2, MKI67
41pdtc32 8.1BCL2, CD40, MMP2, FCER2, IL1B, IL4
42rantes32 8.1KITLG, SELP, CIITA, CD4, CD40LG, CD40
43ribonucleic acid32 7.8KITLG, MYC, CIITA, CD40, MMP14, MMP2
44creatinine32 7.8KITLG, PCNA, SELP, MUC16, CD40LG, CD40
45phosphatidylinositol32 7.0KITLG, VHL, MYC, LIG4, KDR, BCL2
46cholesterol32 9 18 9 10.0KITLG, SELP, CIITA, CD4, CD40, ITGAL
47alanine32 6.7KITLG, PCNA, MYC, RAG1, LIG4, CIITA
48thymidine32 18 7.5KITLG, PCNA, MYC, KDR, CIITA, ZAP70
49testosterone32 9 18 9 9.2KITLG, PCNA, MUC16, CD40LG, MMP2, FMR1
50vegf32 4.4KITLG, PCNA, SELP, VHL, MYC, KDR

GO Terms for genes affiliated with Severe Combined Immunodeficiency

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12Gene Ontology
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Cellular components related to severe combined immunodeficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nonhomologous end joining complexGO:07041910.5LIG4, XRCC4, PRKDC, NHEJ1
2immunological synapseGO:00177210.4CORO1A, ICAM1, ITGAL, CD3E, LCK, ZAP70
3alpha-beta T cell receptor complexGO:04210510.2CD247, CD3E, CD3G, CD3D
4T cell receptor complexGO:04210110.1CD247, CD3E, CD4, CD3G, CD3D, ZAP70
5external side of plasma membraneGO:0098979.7IL13, IL17A, IL2RB, IL2RG, IL4, ENG
6cell surfaceGO:0099869.3PLAU, PLAUR, ABCB1, TGFB1, DPP4, CXCR4
7integral to plasma membraneGO:0058879.3GHR, ICAM1, CCR3, CCR1, CCR5, IL9R
8plasma membraneGO:0058867.4HSPB1, CASP3, GHR, TRAC, TPO, TNFRSF1A
9extracellular regionGO:0055767.3FCER2, IFNB1, IFNG, GHR, TNFRSF11B, TNFRSF1A
10extracellular spaceGO:0056156.5KITLG, IL2, IL21, IL3, IL4, IL5

Biological processes related to severe combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 80)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of isotype switching to IgG isotypesGO:04830411.0IFNG, IL4, CD40, IL2, PTPRC
2positive regulation of B cell proliferationGO:03089010.7BCL2, CD40LG, BCL6, CD40, CD38, IL13
3T cell differentiationGO:03021710.7LCK, CD4, ZAP70, NHEJ1, PTPRC, IL2
4pro-B cell differentiationGO:00232810.7FLT3, PRKDC, LIG4, XRCC4
5positive regulation of osteoclast differentiationGO:04567210.6IL17A, CCR1, IFNG, TNFSF11, CSF1
6embryonic hemopoiesisGO:03516210.6KDR, LMO2, FLT3LG, TPO, IL3, KITLG
7T cell activationGO:04211010.6CD3G, ADA, DPP4, ZAP70, CD7, CD3E
8regulation of immune responseGO:05077610.6IL4, CD247, CD40, ITGA4, ITGAL, ICAM1
9T cell differentiation in thymusGO:03307710.6TP53, RAG2, PRKDC, RAG1, LIG4, BCL2
10B cell differentiationGO:03018310.6RAG2, RAG1, BCL6, CD40LG, ITGA4, FLT3
11T cell receptor signaling pathwayGO:05085210.6TRAC, PTPRC, CD4, CD3G, CD3D, LCK
12positive regulation of T cell proliferationGO:04210210.5CD28, CD3E, ITGAL, IL21, PNP, IFNG
13leukocyte cell-cell adhesionGO:00715910.5PTPRC, ITGAL, ITGA4, CD40LG, SELP, ICAM1
14T cell costimulationGO:03129510.5CD3E, GRB2, CD3G, CD247, CD3D, CD28
15B cell lineage commitmentGO:00232610.5PRKDC, RAG2, BCL2, TP53
16positive regulation of MHC class II biosynthetic processGO:04534810.5IL10, IFNG, CIITA, CD40LG, IL4
17T cell homeostasisGO:04302910.4TGFB1, CASP3, STAT5B, CORO1A, BCL2
18response to ethanolGO:04547110.3CD27, TNFRSF1A, CCL2, ICAM1, IL4, IL13
19B cell proliferationGO:04210010.3PTPRC, IFNB1, CD40, CD40LG, BCL2, IL10
20positive regulation of calcium-mediated signalingGO:05085010.3ZAP70, ITGAL, CD3E, ADA, CD4
21positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.3GHR, IGF1, IL2, IL3, IL4, CSF2
22cell proliferationGO:00828310.2CD5, MKI67, AR, HOXB4, LIG4, PCNA
23positive regulation of interleukin-2 biosynthetic processGO:04508610.2CD28, CD4, IL1B, CD3E, STAT5B
24positive regulation of activated T cell proliferationGO:04210410.2IL2, IL4, IGFBP2, IGF1, STAT5B
25cell surface receptor signaling pathwayGO:00716610.1IFNG, IFNB1, CCL2, CD4, CD3D, CD3E
26positive regulation of MAP kinase activityGO:04340610.1TGFB1, KITLG, TNFSF11, VEGFA, CD40, FLT3
27humoral immune responseGO:00695910.1IFNG, IL6, CD28, IL7, CCL2, IFNB1
28immune responseGO:00695510.0IL4R, IL5, IL7R, IL9, CCR5, CCR1
29homeostasis of number of cells within a tissueGO:04887310.0BCL2, BAX, CD7, CORO1A, CSF1
30agingGO:0075689.9IL1B, ADA, IL15, GRB2, CCL2, IGFBP2
31virus-host interactionGO:0190489.9IL2RG, KDR, BAX, LCK, TGFB1, CD247
32cell-cell signalingGO:0072679.8IL10, IL3, TSHR, PTHLH, CCR1, CCR5
33cytokine-mediated signaling pathwayGO:0192219.7TNFSF11, TYK2, STAT5B, CSF3, CIITA, IL1B
34positive regulation of NF-kappaB transcription factor activityGO:0510929.7TNFSF11, TNFRSF8, ICAM1, IL6, IL1B, TGFB1
35defense response to Gram-negative bacteriumGO:0508299.7SELP, IL6, CD4, MMP7, NOS2
36response to gamma radiationGO:0103329.7PTPRC, LIG4, CCL2, BCL2, MYC, BAX
37response to hypoxiaGO:0016669.6ADA, BCL2, IL1B, ENG, CCL2, LCT
38positive regulation of MAPK cascadeGO:0434109.4IL6, PTPRC, IGF1, INS, AR, FLT3
39organ regenerationGO:0311009.4CCL2, NOTCH1, PPARG, AFP, MKI67, ANGPT2
40inflammatory responseGO:0069549.3TNFRSF1A, IL5, IL17A, IL15, IL13, CCR5
41cell adhesionGO:0071559.2CCR1, IL2, ADA, ABL1, ICAM1, CCR3
42platelet activationGO:0301689.1TIMP1, THPO, TGFB1, SELP, IL6, GRB2
43positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0CD4, TP53, CD3E, INS, IL3, IL5
44negative regulation of apoptotic processGO:0430668.9CXCL12, CD38, VEGFA, CSF2, TIMP1, PLAUR
45blood coagulationGO:0075968.3PLAUR, ITGAL, PRKG1, ITGA4, ANGPT2, LCK
46response to drugGO:0424938.3TNFRSF11B, CCL2, IGFBP2, IFNG, ICAM1, PPARG
47positive regulation of cell proliferationGO:0082848.2FLT3, AR, INS, IL15, IL2, IL3
48positive regulation of transcription from RNA polymerase II promoterGO:0459448.1IFNB1, TP53, TNFRSF1A, TNFSF11, PPARG, NOTCH1
49signal transductionGO:0071657.7IL18R1, ANGPT2, KITLG, CCL2, IGFBP1, IGFBP2
50positive regulation of transcription, DNA-dependentGO:0458937.7TGFB1, VHL, CD38, AR, IL10, RFXAP

Molecular functions related to severe combined immunodeficiency according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1interleukin-2 receptor activityGO:00491110.3IL2RG, IL2RB, IL2RA
2transmembrane signaling receptor activityGO:0048889.9TNFRSF8, ICAM1, ENG, IL1R1, CD5, CD247
3receptor activityGO:0048729.8PLAUR, TNFRSF9, TNFRSF11B, ICAM1, IL18R1, CD7
4protease bindingGO:0020209.5DPP4, TNFRSF1A, TP53, IL1R1, INSL3, INS
5cytokine activityGO:0051259.1KITLG, VEGFA, CD40LG, FLT3LG, IL10, IL13
6growth factor activityGO:0080838.4IL10, IL1B, IL2, IL3, IL4, IL5
7enzyme bindingGO:0198998.3CSF3, PRKDC, TGFB1, NOTCH1, PLAUR, PPARG
8protein bindingGO:0055153.5NOTCH1, CSF2, NHEJ1, ADA, HGS, EPCAM

Sources for Severe Combined Immunodeficiency

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2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS
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