Investigation of suspected deficient Fas‐mediated apoptosis in a father and son

Hanlon, Matthew; Gacis, M. L.; Kakakios, Alyson; Kilham, Henry

doi:10.1002/1097-0320(20010301)43:3<195::aid-cyto1049>3.3.co;2-v

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2003

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“…[20,21,26,[32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48] Only two patients have been described with a mutation of the caspase-10 gene. [20,21,26,[32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48] Only two patients have been described with a mutation of the caspase-10 gene.…”

Section: Clinical Symptomsmentioning

confidence: 99%

Autoimmune Lymphoproliferative Syndrome

Bosch¹

2003

Pediatric Drugs

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Autoimmune lymphoproliferative syndrome (ALPS) is a childhood disorder characterized by chronic, nonmalignant lymphoproliferation and autoimmunity, most commonly involving cells of hematopoietic origin. Mutations of the tumor necrosis factor receptor super family member 6 (TNFRSF6) gene, coding for the apoptosis-inducing protein Fas (Apo-1, CD95) are involved in the physiopathology of the syndrome, although the complete mechanism by which the syndrome is caused has not yet been unraveled. Although the syndrome has a benign nature, life-threatening complications can demand treatment. Treatment schedules, including corticosteroids, low doses of chemotherapy, granulocyte colony stimulating factor, or splenectomy, have varying results. Treatment with the antimalarial drug pyrimethamine/sulfadoxine (25/500mg per tablet) seems to be a new, well tolerated, and efficient approach, although larger studies will have to demonstrate the true value of this drug in patients with ALPS.

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