IMD7
MCID: TCL022
MIFTS: 19

T-Cell Receptor-Alpha/beta Deficiency (IMD7)

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

Aliases & Classifications for T-Cell Receptor-Alpha/beta Deficiency

MalaCards integrated aliases for T-Cell Receptor-Alpha/beta Deficiency:

Name: T-Cell Receptor-Alpha/beta Deficiency 58 76 74
T-Cell Receptor Alpha/beta Deficiency 30 6 41
Immunodeficiency 7, Tcr-Alpha/beta Deficient 58 76
Tcr-Alpha/beta Deficiency 58 76
Immunodeficiency 7 58 76
Imd7 58 76
Tcr-Alpha-Beta-Positive T-Cell Deficiency 60
Tcr-Alpha-Beta+ T-Cell Deficiency 60
Immunodeficiency 7; Imd7 58

Characteristics:

Orphanet epidemiological data:

60
tcr-alpha-beta-positive t-cell deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
t-cell receptor-alpha/beta deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615387
MeSH 45 D007153
Orphanet 60 ORPHA397959
UMLS 74 C3809332

Summaries for T-Cell Receptor-Alpha/beta Deficiency

UniProtKB/Swiss-Prot : 76 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 : T-Cell Receptor-Alpha/beta Deficiency, also known as t-cell receptor alpha/beta deficiency, is related to immunodeficiency, common variable, 7. An important gene associated with T-Cell Receptor-Alpha/beta Deficiency is TRAC (T Cell Receptor Alpha Constant). Affiliated tissues include t cells, and related phenotypes are failure to thrive and autoimmunity

Description from OMIM: 615387

Related Diseases for T-Cell Receptor-Alpha/beta Deficiency

Diseases related to T-Cell Receptor-Alpha/beta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 7 11.2

Symptoms & Phenotypes for T-Cell Receptor-Alpha/beta Deficiency

Human phenotypes related to T-Cell Receptor-Alpha/beta Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 autoimmunity 33 HP:0002960
3 recurrent infections 33 HP:0002719
4 lymphadenopathy 33 HP:0002716
5 hypereosinophilia 33 HP:0032061

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Immunology:
recurrent infections
lymphadenopathy
autoimmune disorders
hypereosinophilia
t cell dysfunction
more

Clinical features from OMIM:

615387

Drugs & Therapeutics for T-Cell Receptor-Alpha/beta Deficiency

Search Clinical Trials , NIH Clinical Center for T-Cell Receptor-Alpha/beta Deficiency

Genetic Tests for T-Cell Receptor-Alpha/beta Deficiency

Genetic tests related to T-Cell Receptor-Alpha/beta Deficiency:

# Genetic test Affiliating Genes
1 T-Cell Receptor Alpha/beta Deficiency 30 TRAC

Anatomical Context for T-Cell Receptor-Alpha/beta Deficiency

MalaCards organs/tissues related to T-Cell Receptor-Alpha/beta Deficiency:

42
T Cells

Publications for T-Cell Receptor-Alpha/beta Deficiency

Articles related to T-Cell Receptor-Alpha/beta Deficiency:

# Title Authors Year
1
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. ( 21206088 )
2011

Variations for T-Cell Receptor-Alpha/beta Deficiency

ClinVar genetic disease variations for T-Cell Receptor-Alpha/beta Deficiency:

6
# 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
2 TRAC NG_001332.2: g.1074699G> A single nucleotide variant Pathogenic rs397514259 GRCh38 Chromosome 14, 22550664: 22550664

Expression for T-Cell Receptor-Alpha/beta Deficiency

Search GEO for disease gene expression data for T-Cell Receptor-Alpha/beta Deficiency.

Pathways for T-Cell Receptor-Alpha/beta Deficiency

GO Terms for T-Cell Receptor-Alpha/beta Deficiency

Sources for T-Cell Receptor-Alpha/beta Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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