Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

Jochen Rössler; Anselm Enders; Georgia Lahr; Andreas Heitger; Karl Winkler; Hans Fuchs; Matthias Kopp; Charlotte Niemeyer; Stephan Ehl

doi:10.1016/j.jpeds.2005.07.027

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

J Pediatr. 2005 Nov;147(5):691-4. doi: 10.1016/j.jpeds.2005.07.027.

Authors

Jochen Rössler¹, Anselm Enders, Georgia Lahr, Andreas Heitger, Karl Winkler, Hans Fuchs, Matthias Kopp, Charlotte Niemeyer, Stephan Ehl

Affiliation

¹ Department of Pediatrics, University of Freiburg, Freiburg, Germany, and University Children's Hospital, University of Ulm, St.Anna-Kinderspital, Vienna, Austria.

PMID: 16291365
DOI: 10.1016/j.jpeds.2005.07.027

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.

Publication types

Case Reports

MeSH terms

Algorithms
Apoptosis / genetics
Autoimmune Diseases / diagnosis*
Autoimmune Diseases / genetics
Child
DNA Mutational Analysis / methods*
Diagnosis, Differential
Germ-Line Mutation
Humans
Immunophenotyping
Lymphocyte Count
Lymphoproliferative Disorders / diagnosis*
Lymphoproliferative Disorders / genetics
Phenotype
Receptors, Antigen, T-Cell, alpha-beta
T-Lymphocyte Subsets / metabolism*
fas Receptor / genetics*

Substances

Receptors, Antigen, T-Cell, alpha-beta
fas Receptor