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Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease?

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机构： [a]Department of Pediatrics, BaYi Children's Hospital of The General Military Hospital of Beijing PLA, 5 Nanmencang Road, Dongcheng District, Beijing 100700, China [b]Department of Pediatrics, 421 Hospital of Guangzhou PLA, Guangzhou 510280, China [c]Department of Pediatrics, Zhu-Jiang Hospital of Southern Medical University, Guangzhou 510280, China [d]Department of Pathology, Zhu-Jiang Hospital of Southern Medical University, Guangzhou 510280, China

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关键词： Langerhans cell histiocytosis Pediatric Sequence analysis X-linked lymphoproliferative disease

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Langerhans' cell histiocytosis (LCH) is a rare disease of unkown cause and is characterized by clonal proliferation of Langerhans cells. Here, we describe the case of a 22-month-old boy with LCH associated with X-linked lymphoproliferative disease (XLP). Sequence analysis of SH2D1A for mutations that cause T-cell dysfunction revealed a CT substitution at nucleotide 462. This is the first case that hints at an association between XLP and LCH. © 2010 Elsevier Masson SAS.

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出版当年[2010]版：

大类 | 4 区医学

小类 | 4 区遗传学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区遗传学

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