Ontology highlight
ABSTRACT:
SUBMITTER: Viallard JF
PROVIDER: S-EPMC6949674 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Viallard Jean-François JF Parrens Marie M Rieux-Laucat Frédéric F
Case reports in immunology 20191228
We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency 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-deficiency-associated genes (FAS-ligand (<i>FASL</i>) gene (p.G167R); perforin-1 (<i>PRF1</i> (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (<i>BLM</i>) gene and ...[more]