Title of article :
Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition ?
Author/Authors :
Viallard , Jean-François Internal Medicine Department - Hôpital Haut-Lévêque - Bordeaux University Hospital - Avenue de Magellan - Pessac, France , Parrens, Marie Pathology Department - Hôpital Haut-Lévêque - Bordeaux University Hospital - Avenue de Magellan - Pessac, France , Rieux-Laucat, Frédéric INSERM UMR - Laboratory of Immunogenetics of Pediatric Autoimmune Diseases - Paris Descartes-Sorbonne - Paris Cité University - Imagine Institute - Paris, France
Abstract :
We report the case of a young woman who developed, 3 years aer stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeciency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deciency–associated genes (FAS-ligand (FASL) gene (p.G167R); perforin-1 (PRF1 (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (BLM) gene and the Moesin (MSN) (p.A122T) gene). e heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. is observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deciency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeciency
Keywords :
Fatal Hypogammaglobulinemia 3 Years , Rituximab , Patient , Immune Thrombocytopenia , Underlying Genetic Predisposition , RTX , ITP
Journal title :
Case Reports in Immunology
