CHIT1 mutations: Genetic risk factor for severe asthma with fungal sensitization? Academic Article uri icon

Overview

MeSH Major

  • Asthma
  • Chitin Synthase
  • Fungi
  • Mutation
  • Respiratory Hypersensitivity

abstract

  • Fungi can exacerbate symptoms in patients with asthma. To our knowledge, genetic risk factors for fungal-associated asthma have not been described. We present here the cases of 6 children who carried the diagnosis of severe asthma with fungal sensitization, 3 of whom were treated with and responded clinically to itraconazole therapy. All 6 patients were heterozygous for a 24-base pair duplication in the CHIT1 gene, which has been associated with decreased levels of circulating chitotriosidase and susceptibility to fungal infection.

publication date

  • October 2010

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1542/peds.2010-0321

PubMed ID

  • 20819891

Additional Document Info

start page

  • e982

end page

  • 5

volume

  • 126

number

  • 4