title: Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.
abstract: A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. 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 5 other patients presented their first symptoms after the age of 16 years. 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 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset.
authors.affiliation: Service de Médecine Interne, Assistance Publique-Hôpitaux de Paris, Hôpital du Kremlin Bicêtre, Le Kremlin-Bicêtre, France. olivier.lambotte@bct.aphp.fr
authors.forename: Olivier
authors.initials: O
authors.lastname: Lambotte
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
authors.forename: Lionel
authors.initials: L
authors.lastname: Galicier
authors.forename: Aude
authors.initials: A
authors.lastname: Magerus-Chatinet
authors.forename: Nicolas
authors.initials: N
authors.lastname: Schleinitz
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Bertrand
authors.initials: B
authors.lastname: Godeau
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Frédéric
authors.initials: F
authors.lastname: Rieux-Laucat
mesh_terms: D000328:Adult; D056735:Autoimmune Lymphoproliferative Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019014:fas Receptor / Q000172:deficiency* / Q000235:genetics
chemical_list: D019014:fas Receptor