MCID: IMM067
MIFTS: 16

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Genetic diseases (common), Immune diseases categories

Aliases & Classifications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Aliases & Descriptions for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient 49 67
T-Cell Receptor-Alpha/beta Deficiency 67
Tcr-Alpha/beta Deficiency 67
 
Immunodeficiency 7 67
Imd7 67


Classifications:



External Ids:

OMIM49 615387
MeSH36 D007153

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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UniProtKB/Swiss-Prot:67 Immunodeficiency 7: A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but little or no TCR-alpha/beta.

MalaCards based summary: Immunodeficiency 7, Tcr-Alpha/beta Deficient, also known as t-cell receptor-alpha/beta deficiency, is related to ichthyosis, congenital, autosomal recessive 1, and has symptoms including autosomal recessive inheritance, failure to thrive and lymphadenopathy. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T Cell Receptor Alpha Constant), and among its related pathways are CD28 co-stimulation and Immune response Antigen presentation by MHC class II. Affiliated tissues include t cells.

Description from OMIM:49 615387

Related Diseases for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Diseases related to Immunodeficiency 7, Tcr-Alpha/beta Deficient via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 19.8TRA, TRAC

Symptoms for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Symptoms by clinical synopsis from OMIM:

615387

Clinical features from OMIM:

615387

HPO human phenotypes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 failure to thrive HP:0001508
3 lymphadenopathy HP:0002716
4 recurrent infections HP:0002719
5 autoimmunity HP:0002960
6 infantile onset HP:0003593

Drugs & Therapeutics for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Interventional clinical trials:

idNameStatusNCT IDPhase
1TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PIDRecruitingNCT02327351Phase 2, Phase 3
2Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell TransplantRecruitingNCT02065869Phase 1, Phase 2

Search NIH Clinical Center for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Genetic Tests for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Anatomical Context for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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MalaCards organs/tissues related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

33
T cells

Animal Models for Immunodeficiency 7, Tcr-Alpha/beta Deficient or affiliated genes

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Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Clinvar genetic disease variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NG_001332.2: g.1074699G> Asingle nucleotide variantPathogenicrs397514259GRCh37Chr 14, 23019608: 23019608

Expression for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Search GEO for disease gene expression data for Immunodeficiency 7, Tcr-Alpha/beta Deficient.

Pathways for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Pathways related to Immunodeficiency 7, Tcr-Alpha/beta Deficient according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1TRA, TRAC
2
Show member pathways
9.1TRA, TRAC
3
TCR signaling (REACTOME)
Show member pathways
9.1TRA, TRAC
4
B cell receptor signaling pathway (KEGG)
Show member pathways
9.1TRA, TRAC
5
Show member pathways
9.1TRA, TRAC
6
Show member pathways
9.1TRA, TRAC
7
Show member pathways
9.1TRA, TRAC
89.1TRA, TRAC
99.1TRA, TRAC
109.1TRA, TRAC
119.1TRA, TRAC
129.1TRA, TRAC
13
Show member pathways
9.1TRA, TRAC
14
Show member pathways
9.1TRA, TRAC
159.1TRA, TRAC

GO Terms for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Sources for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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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