IMD7
MCID: TCL022
MIFTS: 26

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 56 73 71
Immunodeficiency 7, Tcr-Alpha/beta Deficient 56 73 29
T-Cell Receptor Alpha/beta Deficiency 29 6 39
Tcr-Alpha/beta Deficiency 56 73
Immunodeficiency 7 56 73
Imd7 56 73
Tcr-Alpha-Beta-Positive T-Cell Deficiency 58
Tcr-Alpha-Beta+ T-Cell Deficiency 58
Immunodeficiency 7; Imd7 56

Characteristics:

Orphanet epidemiological data:

58
tcr-alpha-beta-positive t-cell deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
t-cell receptor-alpha/beta deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


External Ids:

OMIM 56 615387
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
Orphanet 58 ORPHA397959
UMLS 71 C3809332

Summaries for T-Cell Receptor-Alpha/beta Deficiency

UniProtKB/Swiss-Prot : 73 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 immunodeficiency 7, tcr-alpha/beta deficient, 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), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Immune response NFAT in immune response. Affiliated tissues include t cells, and related phenotypes are failure to thrive and autoimmunity

More information from OMIM: 615387 PS300755

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:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 7 11.3

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

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

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 autoimmunity 31 HP:0002960
3 recurrent infections 31 HP:0002719
4 lymphadenopathy 31 HP:0002716
5 hypereosinophilia 31 HP:0032061

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Immunology:
recurrent infections
lymphadenopathy
hypereosinophilia
autoimmune disorders
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 29
2 Immunodeficiency 7, Tcr-Alpha/beta Deficient 29

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

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

40
T Cells

Publications for T-Cell Receptor-Alpha/beta Deficiency

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

(showing 5, show less)
# Title Authors PMID Year
1
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. 6 56
21206088 2011
2
High-dose Therapy and Autologous Hematopoietic Cell Transplantation as Consolidation Treatment for Primary Effusion Lymphoma. 61
31253594 2019
3
Takayasu arteritis in childhood: misdiagnoses at disease onset and associated diseases. 61
29687155 2018
4
Inpatient consultation of allergy/immunology in a tertiary care setting. 61
12722960 2003
5
Non-infective colitis in infancy: evidence in favour of minor immunodeficiency in its pathogenesis. 61
9166029 1997

Variations for T-Cell Receptor-Alpha/beta Deficiency

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

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAC NG_001332.2:g.1074699G>ASNV Pathogenic 64370 rs397514259 14:23019608-23019608 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

Pathways related to T-Cell Receptor-Alpha/beta Deficiency according to GeneCards Suite gene sharing:

(showing 12, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 TRAC TRA
2
Show member pathways
12.07 TRAC TRA
3
Show member pathways
12.01 TRAC TRA
4
Show member pathways
11.9 TRAC TRA
5
Show member pathways
11.47 TRAC TRA
6 11.42 TRAC TRA
7
Show member pathways
11.42 TRAC TRA
8 11.41 TRAC TRA
9 11.13 TRAC TRA
10 10.89 TRAC TRA
11 10.65 TRAC TRA
12
Show member pathways
10.58 TRAC TRA

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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