TACI mutation with invasive polyclonal CD8+ T-cell lymphoproliferation in a patient with common variable immunodeficiency

The Journal of Allergy and Clinical Immunology
Lucinda J BerglundDavid A Fulcher

Abstract

Mutations of the gene encoding the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), TNFSRF13B, have recently been described in patients with common variable immunodeficiency (CVID). We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration. Although lymphoproliferation is well described in CVID, the key features in this patient included the T-cell origin of the lymphoproliferation, its polyclonal nature, its infiltration into multiple organs, and the presence of the TACI gene mutation.

Citations

Dec 19, 2006·Allergologia et immunopathologia·A Blanco-QuirósE Arranz-Sanz
Aug 13, 2011·Pediatric Transplantation·Yasuhiro MurakawaHironori Haga
Aug 19, 2006·Seminars in Immunology·Stuart G TangyeKim L Good
Sep 2, 2014·The Journal of Allergy and Clinical Immunology·Michael W MatherAndrew R Gennery
Jun 26, 2007·The Journal of Allergy and Clinical Immunology·Javier Chinen, William T Shearer
Jan 31, 2012·International Archives of Allergy and Immunology·Alessandra VultaggioEnrico Maggi
Jun 17, 2010·The American Journal of Gastroenterology·Georgia MalamutChristophe Cellier
Nov 4, 2008·Current Opinion in Allergy and Clinical Immunology·John J LeeRaif S Geha

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