CHIT1 mutations: genetic risk factor for severe asthma with fungal sensitization?

Pediatrics. 2010 Oct;126(4):e982-5. doi: 10.1542/peds.2010-0321. Epub 2010 Sep 6.

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 types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antifungal Agents / therapeutic use
  • Asthma / genetics*
  • Asthma / immunology
  • Child
  • Chitin Synthase / genetics*
  • Fungi / immunology*
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Itraconazole / therapeutic use
  • Male
  • Mutation*
  • Respiratory Hypersensitivity / complications*

Substances

  • Antifungal Agents
  • Itraconazole
  • Chitin Synthase