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

J Clin Immunol. 2021 Aug;41(6):1395-1399. doi: 10.1007/s10875-021-01047-x. Epub 2021 Apr 28.

Abstract

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.

Keywords: Non-Hodgkin lymphoma; Rearrangements; Severe combined immunodeficiency; T cell receptor alpha constant gene.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Gene Rearrangement / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Lymphoma / genetics*
  • Male
  • Receptors, Antigen, T-Cell, alpha-beta / genetics*

Substances

  • Receptors, Antigen, T-Cell, alpha-beta