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

doi:10.1542/peds.2010-0321

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

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 language	English (US)
Pages (from-to)	e982-e985
Journal	Pediatrics
Volume	126
Issue number	4
DOIs	https://doi.org/10.1542/peds.2010-0321
State	Published - Oct 2010

Keywords

Allergy
Chitin
Innate immunity

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1542/peds.2010-0321

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title = "CHIT1 mutations: Genetic risk factor for severe asthma with fungal sensitization?",

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.",

keywords = "Allergy, Chitin, Innate immunity",

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T2 - Genetic risk factor for severe asthma with fungal sensitization?

AU - Vicencio, Alfin G.

AU - Chupp, Geoffrey L.

AU - Tsirilakis, Kalliope

AU - He, Xiaoxuan

AU - Kessel, Aaron

AU - Nandalike, Kiran

AU - Veler, Haviva

AU - Kipperman, Stacy

AU - Young, Michael C.

AU - Goldman, David L.

PY - 2010/10

Y1 - 2010/10

N2 - 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.

AB - 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.

KW - Allergy

KW - Chitin

KW - Innate immunity

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

Abstract

Keywords

ASJC Scopus subject areas

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