Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.
case_report · Level V
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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.
Medical subject headings
- Autoimmune Diseases
- DNA Mutational Analysis
- Lymphoproliferative Disorders
- T-Lymphocyte Subsets
- fas Receptor