Title: Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
Authors: Lambotte, Olivier ×
Neven, Benedicte
Galicier, Lionel
Magerus-Chatinet, Aude
Schleinitz, Nicolas
Hermine, Olivier
Meyts, Isabelle
Picard, Capucine
Godeau, Bertrand
Fischer, Alain
Rieux-Laucat, Frederic #
Issue Date: Mar-2013
Publisher: Il Pensiero Scientifico
Series Title: Haematologica vol:98 issue:3 pages:389-92
Abstract: A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. Analysis of 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias was performed. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons (including unusual clinical manifestations, late referral to a reference center and the occurrence of somatic FAS mutations). The five other patients presented their first symptoms after the age of 16. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in two cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset.
ISSN: 0390-6078
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
× corresponding author
# (joint) last author

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