Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.
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.
Rössler
Jochen
J
Department of Pediatrics, University of Freiburg, Freiburg, Germany, and University Children's Hospital, University of Ulm, St.Anna-Kinderspital, Vienna, Austria.
Enders
Anselm
A
Lahr
Georgia
G
Heitger
Andreas
A
Winkler
Karl
K
Fuchs
Hans
H
Kopp
Matthias
M
Niemeyer
Charlotte
C
Ehl
Stephan
S
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*
D016693:Receptors, Antigen, T-Cell, alpha-beta; D019014:fas Receptor