MCID: IMM067
MIFTS: 21

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Categories: Genetic diseases (common), 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 49 67
T-Cell Receptor-Alpha/beta Deficiency 67 24 65
Tcr-Alpha/beta Deficiency 67
 
Immunodeficiency 7 67
Imd7 67

Characteristics:

HPO:

61
immunodeficiency 7, tcr-alpha/beta deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 615387
MeSH36 D007153
UMLS65 C3809332

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 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 CD28 co-stimulation and Immune response Antigen presentation by MHC class II. Affiliated tissues include t cells and liver.

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
1cr2-related common variable immune deficiency11.4
2ichthyosis, congenital, autosomal recessive 19.7TRA, 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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Drugs for Immunodeficiency 7, Tcr-Alpha/beta Deficient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 1, Phase 23572

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, Liver

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1TRA, TRAC
2
Show member pathways
9.1TRA, TRAC
3
Show member pathways
9.1TRA, TRAC
4
Show member pathways
9.1TRA, TRAC
5
Show member pathways
9.1TRA, TRAC
6
Show member pathways
9.1TRA, TRAC
79.1TRA, TRAC
8
Show member pathways
9.1TRA, 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