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.
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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)
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Chemical References |
- Antibodies, Monoclonal
- Antibodies, Monoclonal, Murine-Derived
- Antineoplastic Agents
- RNA Splice Sites
- fas Receptor
- Rituximab
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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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