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 journalArticle

18 Citations (Scopus)

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.

Original languageEnglish (US)
JournalPediatrics
Volume126
Issue number4
DOIs
StatePublished - Oct 2010

Fingerprint

Asthma
Mutation
Itraconazole
Mycoses
Base Pairing
Fungi
Genes
Therapeutics
chitotriosidase

Keywords

  • Allergy
  • Chitin
  • Innate immunity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Vicencio, A. G., Chupp, G. L., Tsirilakis, K., He, X., Kessel, A., Nandalike, K., ... Goldman, D. L. (2010). CHIT1 mutations: Genetic risk factor for severe asthma with fungal sensitization? Pediatrics, 126(4). https://doi.org/10.1542/peds.2010-0321

CHIT1 mutations : Genetic risk factor for severe asthma with fungal sensitization? / Vicencio, Alfin G.; Chupp, Geoffrey L.; Tsirilakis, Kalliope; He, Xiaoxuan; Kessel, Aaron; Nandalike, Kiran; Veler, Haviva; Kipperman, Stacy; Young, Michael C.; Goldman, David L.

In: Pediatrics, Vol. 126, No. 4, 10.2010.

Research output: Contribution to journalArticle

Vicencio, AG, Chupp, GL, Tsirilakis, K, He, X, Kessel, A, Nandalike, K, Veler, H, Kipperman, S, Young, MC & Goldman, DL 2010, 'CHIT1 mutations: Genetic risk factor for severe asthma with fungal sensitization?', Pediatrics, vol. 126, no. 4. https://doi.org/10.1542/peds.2010-0321
Vicencio AG, Chupp GL, Tsirilakis K, He X, Kessel A, Nandalike K et al. CHIT1 mutations: Genetic risk factor for severe asthma with fungal sensitization? Pediatrics. 2010 Oct;126(4). https://doi.org/10.1542/peds.2010-0321
Vicencio, Alfin G. ; Chupp, Geoffrey L. ; Tsirilakis, Kalliope ; He, Xiaoxuan ; Kessel, Aaron ; Nandalike, Kiran ; Veler, Haviva ; Kipperman, Stacy ; Young, Michael C. ; Goldman, David L. / CHIT1 mutations : Genetic risk factor for severe asthma with fungal sensitization?. In: Pediatrics. 2010 ; Vol. 126, No. 4.
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