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Case Reports
. 2005 Nov;147(5):691-4.
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

Jochen Rössler  1 , Anselm Enders, Georgia Lahr, Andreas Heitger, Karl Winkler, Hans Fuchs, Matthias Kopp, Charlotte Niemeyer, Stephan Ehl
Affiliations
Case Reports

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

Jochen Rössler et al. J Pediatr. 2005 Nov.

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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Comment in

  • Sorting out the causes of ALPS.
    Bleesing JJ. Bleesing JJ. J Pediatr. 2005 Nov;147(5):571-4. doi: 10.1016/j.jpeds.2005.09.025. J Pediatr. 2005. PMID: 16291343 No abstract available.

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