Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis.

Abstract:

:Cytokines and chemokines determine mobilisation of Langerhans cells and their dysregulation is implicated in the pathogenesis of Langerhans cell histiocytosis (LCH). Twenty point mutations of 12 different cytokine genes were studied in 41 Italian children, 15 with single-system (SS) and 26 with multi-system disease. The allele and genotype distributions of interleukin-4 (IL-4) and interferon-gamma (IFNgamma) were significantly different in patients vs. 140 controls (P = 0.007, and P = 0.018). Older children with single-system disease shared the 'anti-inflammatory profile' determined by the intermediate producer genotype IFNgamma +874A/T (P = 0.029) and the high-producer genotypes IL-4 -590C/T and T/T (P = 0.029). Our findings suggest that specific cytokine gene variants affect susceptibility to LCH and its clinical heterogeneity.

journal_name

Br J Haematol

authors

De Filippi P,Badulli C,Cuccia M,De Silvestri A,Dametto E,Pasi A,Garaventa A,del Prever AB,Todesco A,Trizzino A,Danesino C,Martinetti M,Aricò M

doi

10.1111/j.1365-2141.2005.05922.x

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

784-7

issue

6

eissn

0007-1048

issn

1365-2141

pii

BJH5922

journal_volume

132

pub_type

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