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 57 75 73
T-Cell Receptor Alpha/beta Deficiency 29 6 40
Immunodeficiency 7, Tcr-Alpha/beta Deficient 57 75
Tcr-Alpha/beta Deficiency 57 75
Immunodeficiency 7 57 75
Imd7 57 75
Tcr-Alpha-Beta-Positive T-Cell Deficiency 59
Tcr-Alpha-Beta+ T-Cell Deficiency 59
Immunodeficiency 7; Imd7 57

Characteristics:

Orphanet epidemiological data:

59
tcr-alpha-beta-positive t-cell deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
t-cell receptor-alpha/beta deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615387
Orphanet 59 ORPHA397959
MeSH 44 D007153
UMLS 73 C3809332

Summaries for T-Cell Receptor-Alpha/beta Deficiency

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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

Clinical features from OMIM:

615387

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

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

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 29 TRAC

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

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

41
T Cells

Publications for T-Cell Receptor-Alpha/beta Deficiency

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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