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.

Abstract	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.
Authors	Andrew Wei, Tiffany Cowie
Journal	European journal of haematology (Eur J Haematol) Vol. 79 Issue 4 Pg. 363-6 (Oct 2007) ISSN: 0902-4441 [Print] England
PMID	17725802 (Publication Type: Case Reports, Journal Article)
Chemical References	Antibodies, Monoclonal Antibodies, Monoclonal, Murine-Derived Antineoplastic Agents RNA Splice Sites fas Receptor Rituximab
Topics	Adult Antibodies, Monoclonal (administration & dosage) Antibodies, Monoclonal, Murine-Derived Antineoplastic Agents (administration & dosage) Genetic Diseases, Inborn (blood, complications, drug therapy, genetics, immunology) Humans Immunosuppression Therapy Lymphocyte Count Lymphoproliferative Disorders (blood, complications, drug therapy, genetics, immunology) Male Point Mutation Purpura, Thrombocytopenic, Idiopathic (blood, complications, drug therapy, genetics, immunology) RNA Splice Sites (genetics) Rituximab Splenectomy fas Receptor (genetics, immunology, metabolism)

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