CHIT1 mutations: genetic risk factor for severe asthma with fungal sensitization?
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20819891.
- Also identified by DOI 10.1542/peds.2010-0321.
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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.
Medical subject headings
- Asthma
- Chitin Synthase
- Fungi
- Mutation
- Respiratory Hypersensitivity