title: Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.
abstract: In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRalpha/beta+CD3+CD8-CD4- T cells.
authors.affiliation: Department of Pediatrics, University of Freiburg, Freiburg, Germany, and University Children's Hospital, University of Ulm, St.Anna-Kinderspital, Vienna, Austria.
authors.forename: Jochen
authors.initials: J
authors.lastname: Rössler
authors.forename: Anselm
authors.initials: A
authors.lastname: Enders
authors.forename: Georgia
authors.initials: G
authors.lastname: Lahr
authors.forename: Andreas
authors.initials: A
authors.lastname: Heitger
authors.forename: Karl
authors.initials: K
authors.lastname: Winkler
authors.forename: Hans
authors.initials: H
authors.lastname: Fuchs
authors.forename: Matthias
authors.initials: M
authors.lastname: Kopp
authors.forename: Charlotte
authors.initials: C
authors.lastname: Niemeyer
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
mesh_terms: D000465:Algorithms; D017209:Apoptosis / Q000235:genetics; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods*; D003937:Diagnosis, Differential; D018095:Germ-Line Mutation; D006801:Humans; D016130:Immunophenotyping; D018655:Lymphocyte Count; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D016693:Receptors, Antigen, T-Cell, alpha-beta; D016176:T-Lymphocyte Subsets / Q000378:metabolism*; D019014:fas Receptor / Q000235:genetics*
chemical_list: D016693:Receptors, Antigen, T-Cell, alpha-beta; D019014:fas Receptor