MCID: SVR022
MIFTS: 17

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 23
B Cell-Negative Severe Combined Immunodeficiency 23
 
Scid, Autosomal Recessive 23

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-positive, cd3d-related and scid, autosomal recessive, t-negative/b-positive type. 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 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-positive, cd3d-related31.0RAG1, RAG2
2scid, autosomal recessive, t-negative/b-positive type12.1
3severe combined immunodeficiency, b cell-negative11.6
4severe combined immunodeficiency, athabascan type11.1
5severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation11.0
6zap70-related severe combined immunodeficiency11.0
7severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related11.0
8severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related11.0
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related11.0
10severe combined immunodeficiency10.2
11omenn syndrome9.9
12alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity9.7RAG1, RAG2
13gamma chain deficiency9.7RAG1, RAG2
14severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related9.6RAG1, RAG2
15denys-drash syndrome9.6RAG1, RAG2
16cd40 deficiency9.5RAG1, RAG2
17silicosis9.5RAG1, RAG2
18heart lipoma9.4RAG1, RAG2
19autoimmune thyroid disease 49.2RAG1, 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-Related23 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:

34
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
1pre-B cell allelic exclusionGO:00023319.5RAG1, RAG2
2T cell differentiation in thymusGO:00330779.1RAG1, RAG2
3B cell differentiationGO:00301839.0RAG1, RAG2
4V(D)J recombinationGO:00331518.8RAG1, RAG2

Molecular functions 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
1ubiquitin protein ligase activityGO:00616309.1RAG1, RAG2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet