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A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Blood - 3 Nov 2011

Neven Bénédicte, Magerus-Chatinet Aude, Florkin Benoit, Gobert Delphine, Lambotte Olivier, De Somer Lien, Lanzarotti Nina, Stolzenberg Marie-Claude, Bader-Meunier Brigitte, Aladjidi Nathalie, Chantrain Christophe, Bertrand Yves, Jeziorski Eric, Leverger Guy, Michel Gérard, Suarez Felipe, Oksenhendler Eric, Hermine Olivier, Blanche Stéphane, Picard Capucine, Fischer Alain, Rieux-Laucat Frédéric

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder characterized by early-onset, chronic, nonmalignant lymphoproliferation, autoimmune manifestations, and susceptibility to lymphoma. The majority of ALPS patients carry heterozygous germline (ALPS-FAS) or somatic mutations (ALPS-sFAS) of the TNFRSF6 gene coding for FAS. Although the clinical features of ALPS have been described previously,...

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Autoimmune Lymphoproliferative Syndrome
Child
Child, Preschool
Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21885602
DOI: 10.1182/blood-2011-04-347641

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FAS

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