体细胞和生殖系CD95突变患者的相同表型需要一种针对自身免疫性淋巴增殖综合征的新诊断方法。

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

作者信息

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

机构信息

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

出版信息

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

DOI:10.1016/j.jpeds.2005.07.027

PMID: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.

摘要

在一名CD95基因发生体细胞突变的患者中，临床表型的长期演变与由种系CD95突变引起的自身免疫性淋巴增殖综合征患者的情况无法区分。有人建议采用一种新的自身免疫性淋巴增殖综合征诊断算法，该算法纳入了对分选的TCRα/β⁺CD3⁺CD8⁻CD4⁻T细胞的研究。