JSON

TCR-alpha-beta-positive T-cell deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0014160

A non-severe combined 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. [ https://orcid.org/0000-0003-4062-6158 https://omim.org/entry/615387 DOID:0111977 ]

Synonyms: TCR-alpha-beta+ T-cell deficiency TCR-alpha-beta-positive T-cell deficiency IMD7 immunodeficiency 7, TCR-alpha/beta deficient

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0111977

http://linkedlifedata.com/resource/umls/id/C3809332

https://omim.org/entry/615387

http://www.orpha.net/ORDO/Orphanet_397959

has related synonym

T-cell receptor-ALPHA/BETA deficiency

TCR-Alpha/Beta deficiency

immunodeficiency 7

id

MONDO:0014160

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014160

Term relations