MCID: SVR022
MIFTS: 15

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

Categories: Genetic diseases (common), Immune diseases

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
B Cell-Negative Severe Combined Immunodeficiency 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 b cell-negative severe combined immunodeficiency, is related to severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related and severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-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 19)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related31.8RAG1, RAG2
2severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related31.6RAG1, RAG2
3scid, autosomal recessive, t-negative/b-positive type12.5
4severe combined immunodeficiency, b cell-negative12.0
5severe combined immunodeficiency, athabascan type11.5
6severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation11.4
7zap70-related severe combined immunodeficiency11.4
8severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related11.4
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related11.4
10alexander disease10.2
11alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity9.8RAG1, RAG2
12posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome9.8RAG1, RAG2
13lymphomatous meningitis9.8RAG1, RAG2
14recombinase activating gene 2 deficiency9.8RAG1, RAG2
15denys-drash syndrome9.8RAG1, RAG2
16cd40 ligand deficiency9.7RAG1, RAG2
17severe congenital neutropenia9.7RAG1, RAG2
18epicardium lipoma9.6RAG1, RAG2
19autoimmune thyroid disease 49.5RAG1, 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 pathwaysScoreTop 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
1B cell differentiationGO:00301839.1RAG1, 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