MCID: IMM067
MIFTS: 22

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

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 50 68
T-Cell Receptor-Alpha/beta Deficiency 50 68 25 66
Tcr-Alpha-Beta-Positive T-Cell Deficiency 52
Tcr-Alpha-Beta+ T-Cell Deficiency 52
 
Tcr-Alpha/beta Deficiency 68
Immunodeficiency 7 68
Imd7 68

Characteristics:

Orphanet epidemiological data:

52
tcr-alpha-beta-positive t-cell deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

62
immunodeficiency 7, tcr-alpha/beta deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 615387
Orphanet52 ORPHA397959
MeSH37 D007153

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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UniProtKB/Swiss-Prot:68 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 cr2-related common variable immune deficiency and ichthyosis, congenital, autosomal recessive 1, and has symptoms including failure to thrive, lymphadenopathy and recurrent infections. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T-Cell Receptor Alpha Constant), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and S-1P Stimulated Signaling. Affiliated tissues include t cells.

Description from OMIM:50 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
1cr2-related common variable immune deficiency11.0
2ichthyosis, congenital, autosomal recessive 19.5TRA, 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:

id Description Frequency HPO Source Accession
1 failure to thrive HP:0001508
2 lymphadenopathy HP:0002716
3 recurrent infections HP:0002719
4 autoimmunity HP:0002960

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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Genetic tests related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

id Genetic test Affiliating Genes
1 T-Cell Receptor Alpha/beta Deficiency25

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

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

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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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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
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