MCID: SVR022
MIFTS: 17

Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related malady

Genetic diseases (common), Immune diseases categories

Aliases & Classifications for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Aliases & Descriptions for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

Name: Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related 22
Severe Combined Immunodeficiency, B Cell-Negative 22
 
Scid, Autosomal Recessive 22


Classifications:



Summaries for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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MalaCards based summary: Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related, also known as severe combined immunodeficiency, b cell-negative, is related to severe combined immunodeficiency, b cell-negative and severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related. An important gene associated with Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related is RAG2 (Recombination Activating Gene 2), and among its related pathways are FoxO signaling pathway and Primary immunodeficiency. Affiliated tissues include b cells, t cells and nk cells.

Related Diseases for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Diseases related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency, b cell-negative30.8RAG1, RAG2
2severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related30.0RAG1, RAG2
3severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related30.0RAG1, RAG2
4scid, autosomal recessive, t-negative/b-positive type10.4
5severe combined immunodeficiency, athabascan type10.3
6severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.1
7zap70-related severe combined immunodeficiency10.1
8severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related10.1
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related10.1
10posterior fusion of lumbosacral vertebrae - blepharoptosis9.9RAG1, RAG2
11lymphomatous meningitis9.9RAG1, RAG2
12gamma chain deficiency9.9RAG1, RAG2
13combined cellular and humoral immune defects with granulomas9.8RAG1, RAG2
14interleukin-7 receptor alpha deficiency9.8RAG1, RAG2
15severe congenital neutropenia9.8RAG1, RAG2
16commensal bacterial infectious disease9.8RAG1, RAG2
17omenn syndrome9.7RAG1, RAG2

Graphical network of diseases related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:



Diseases related to severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related

Symptoms for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Drugs & Therapeutics for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related

Genetic Tests for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Genetic tests related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

id Genetic test Affiliating Genes
1 Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related22 RAG1, RAG2

Anatomical Context for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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MalaCards organs/tissues related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related:

33
B cells, T cells, Nk cells

Animal Models for Severe Combined Immune Deficiency, Autosomal Recessive, T... or affiliated genes

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Publications for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Variations for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Expression for genes affiliated with Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Search GEO for disease gene expression data for Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related.

Pathways for genes affiliated with Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Pathways related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1RAG1, RAG2
29.1RAG1, RAG2

GO Terms for genes affiliated with Severe Combined Immune Deficiency, Autosomal Recessive, T...

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Biological processes related to Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:00023319.5RAG1, RAG2
2V(D)J recombinationGO:00331519.4RAG1, RAG2
3DNA recombinationGO:00063109.2RAG1, RAG2
4B cell differentiationGO:00301839.1RAG1, RAG2
5T cell differentiation in thymusGO:00330778.8RAG1, RAG2

Sources for Severe Combined Immune Deficiency, Autosomal Recessive, T...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet