Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant

Autor:	Luigi D. Notarangelo, Anit Kaur, Alejandro C. Briones, Ankita Singh, Anju Gupta, Pandiarajan Vignesh, Francesca Pala, Mandeep Walia, Surjit Singh, Man Updesh Singh Sachdeva, Kerry Dobbs, Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Jitendra Kumar Shandilya, Ottavia M. Delmonte, José R. Regueiro
Rok vydání:	2021
Předmět:	Genetics Severe combined immunodeficiency Immunology T-cell receptor Alpha (ethology) Biology medicine.disease Genetic analysis Article Lymphoma medicine Immunology and Allergy Beta (finance) Gene Immunodeficiency
Zdroj:	J Clin Immunol
ISSN:	1573-2592 0271-9142
DOI:	10.1007/s10875-021-01047-x
Popis:	We report a non-consanguineous family from North-west India in which 3 siblings succumbed to a rare variant of combined immunodeficiency. All three had similar clinical and immunological profiles. However, the youngest child also developed Non-Hodgkin lymphoma in infancy. Genetic analysis revealed a previously reported variant in the T cell receptor alpha constant (TRAC) gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d969f40916ae31aae215e7d62f94af8 https://doi.org/10.1007/s10875-021-01047-x Zobrazit plný text záznamu Full text from SpringerLink