MCID: IMM067
MIFTS: 21

Immunodeficiency 7, Tcr-Alpha/beta Deficient

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

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

MalaCards integrated aliases for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient 54 71
T-Cell Receptor-Alpha/beta Deficiency 71 69
Tcr-Alpha-Beta-Positive T-Cell Deficiency 56
T-Cell Receptor Alpha/beta Deficiency 29
Tcr-Alpha-Beta+ T-Cell Deficiency 56
Tcr-Alpha/beta Deficiency 71
Immunodeficiency 7 71
Imd7 71

Characteristics:

Orphanet epidemiological data:

56
tcr-alpha-beta-positive t-cell deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Miscellaneous:
two unrelated patients have been reported (last curated august 2013)
onset in first year of life

Inheritance:
autosomal recessive


HPO:

32
immunodeficiency 7, tcr-alpha/beta deficient:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 615387
Orphanet 56 ORPHA397959
MeSH 42 D007153

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

UniProtKB/Swiss-Prot : 71 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 has symptoms including failure to thrive, recurrent infections and lymphadenopathy. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T-Cell Receptor Alpha Constant). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include t cells and liver.

Description from OMIM: 615387

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

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

id Related Disease Score Top Affiliating Genes
1 cr2-related common variable immune deficiency 10.9

Symptoms & Phenotypes for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Symptoms via clinical synopsis from OMIM:

54

Immunology:
decreased number of tcr alpha/beta+ t cells
hypereosinophilia
autoimmune disorders
t cell dysfunction
lymphadenopathy
more
Growth- Other:
failure to thrive


Clinical features from OMIM:

615387

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

32
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent infections 32 HP:0002719
3 lymphadenopathy 32 HP:0002716
4 autoimmunity 32 HP:0002960

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

Drugs for Immunodeficiency 7, Tcr-Alpha/beta Deficient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PID Recruiting NCT02327351 Phase 2, Phase 3
2 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Recruiting NCT02065869 Phase 1, Phase 2 AP1903

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

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

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

id Genetic test Affiliating Genes
1 T-Cell Receptor Alpha/beta Deficiency 29

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

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

39
T Cells, Liver

Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRAC NG_001332.2: g.1074699G> A single nucleotide variant Pathogenic rs397514259 GRCh37 Chromosome 14, 23019608: 23019608

Expression for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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

Pathways for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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

Sources for Immunodeficiency 7, Tcr-Alpha/beta Deficient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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