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

Alfin G. Vicencio, Geoffrey L. Chupp, Kalliope Tsirilakis, Xiaoxuan He, Aaron Kessel, Kiran Nandalike, Haviva Veler, Stacy Kipperman, Michael C. Young, David L. Goldman

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)e982-e985
Issue number4
StatePublished - Oct 2010


  • Allergy
  • Chitin
  • Innate immunity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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