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...

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Bibliographic Details
Published in:The Journal of pediatrics 2005-11, Vol.147 (5), p.691-694
Main Authors: Rössler, Jochen, Enders, Anselm, Lahr, Georgia, Heitger, Andreas, Winkler, Karl, Fuchs, Hans, Kopp, Matthias, Niemeyer, Charlotte, Ehl, Stephan
Format: Article
Language:English
Subjects:
Algorithms
Apoptosis - genetics
Autoimmune Diseases - diagnosis
Autoimmune Diseases - genetics
Biological and medical sciences
Child
Diagnosis, Differential
DNA Mutational Analysis - methods
fas Receptor - genetics
General aspects
Germ-Line Mutation
Humans
Immunophenotyping
Lymphocyte Count
Lymphoproliferative Disorders - diagnosis
Lymphoproliferative Disorders - genetics
Medical sciences
Phenotype
Receptors, Antigen, T-Cell, alpha-beta
T-Lymphocyte Subsets - metabolism
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Summary: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 TCRα/β+CD3+CD8−CD4− T cells.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.07.027