Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?
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 mu...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2019/2543038 |
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| author | Jean-François Viallard Marie Parrens Frédéric Rieux-Laucat |
| author_facet | Jean-François Viallard Marie Parrens Frédéric Rieux-Laucat |
| author_sort | Jean-François Viallard |
| collection | DOAJ |
| description | 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 (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). The 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. This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency. |
| format | Article |
| id | doaj-art-d62dec22b13e4341b8e8a1bdad6f1607 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-d62dec22b13e4341b8e8a1bdad6f16072025-02-03T05:50:34ZengWileyCase Reports in Immunology2090-66092090-66172019-01-01201910.1155/2019/25430382543038Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?Jean-François Viallard0Marie Parrens1Frédéric Rieux-Laucat2Internal Medicine Department, Hôpital Haut-Lévêque, Bordeaux University Hospital, Avenue de Magellan, Pessac, FrancePathology Department, Hôpital Haut-Lévêque, Bordeaux University Hospital, Avenue de Magellan, Pessac, FranceINSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Descartes-Sorbonne, Paris Cité University, Imagine Institute, Paris, FranceWe 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 (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). The 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. This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency.http://dx.doi.org/10.1155/2019/2543038 |
| spellingShingle | Jean-François Viallard Marie Parrens Frédéric Rieux-Laucat Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? Case Reports in Immunology |
| title | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| title_full | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| title_fullStr | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| title_full_unstemmed | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| title_short | Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? |
| title_sort | fatal hypogammaglobulinemia 3 years after rituximab in a patient with immune thrombocytopenia an underlying genetic predisposition |
| url | http://dx.doi.org/10.1155/2019/2543038 |
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