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Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice‐site mutation (IVS7+2 T>C) affecting the Fas gene
Author(s) -
Wei Andrew,
Cowie Tiffany
Publication year - 2007
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2007.00924.x
Subject(s) - autoimmune lymphoproliferative syndrome , immunology , medicine , rituximab , thrombocytopenic purpura , evans syndrome , autoimmune hemolytic anemia , splenectomy , immune system , fas receptor , antibody , biology , spleen , genetics , apoptosis , programmed cell death
A 36 yr‐old man of Israeli descent with a history of childhood splenectomy for severe thrombocytopenia and a family history of autoimmune lymphoproliferative syndrome (ALPS), presented with severe immune thrombocytopenic purpura refractory to standard therapy. He was found to possess a heterozygous mutation in the Fas gene (also termed TNFRSF6, CD95, Apo‐1) affecting the donor splice site of intron 7 (IVS7+2 T>C). This frameshift mutation truncates the cytoplasmic domain of the Fas death receptor, resulting in circulating CD4/8 double negative T lymphocytes, lymphadenopathy and autoimmune complications typical of ALPS. Administration of Rituximab in this patient was associated with a durable hematologic response (currently more than 12 months). This report highlights the need to consider rare inherited causes of thrombocytopenia in adults with a family history of immune cytopenia(s) and the effective use of anti‐CD20 monoclonal antibody in patients unresponsive to immunosuppression and splenectomy.