title: Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease?
abstract: 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.
authors.affiliation: Department of Pediatrics, BaYi Children's Hospital of The General Military Hospital of Beijing PLA, Dongcheng District, Beijing 100700, PR China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Zhang
authors.forename: Dexin
authors.initials: D
authors.lastname: Zhu
authors.forename: Hekui
authors.initials: H
authors.lastname: Lan
authors.forename: Li
authors.initials: L
authors.lastname: Yu
authors.forename: Wei
authors.initials: W
authors.lastname: Peng
authors.forename: Yabo
authors.initials: Y
authors.lastname: Mei
authors.forename: Zhichun
authors.initials: Z
authors.lastname: Feng
mesh_terms: D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked; D006646:Histiocytosis, Langerhans-Cell / Q000209:etiology*; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000150:complications*; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D013601:T-Lymphocytes
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein