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  • Title: Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.
    Author: Rössler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, Kopp M, Niemeyer C, Ehl S.
    Journal: J Pediatr; 2005 Nov; 147(5):691-4. PubMed ID: 16291365.
    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.
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