Display Settings:


Send to:

Choose Destination
Eur J Med Genet. 2011 Mar-Apr;54(2):165-8. doi: 10.1016/j.ejmg.2010.11.006. Epub 2010 Nov 20.

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

Author information

  • 1Department of Pediatrics, BaYi Children's Hospital of The General Military Hospital of Beijing PLA, Dongcheng District, Beijing 100700, PR China.


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.

Copyright © 2010 Elsevier Masson SAS. All rights reserved.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk