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.
authors.affiliation: Division of Pediatric Pulmonology and Cystic Fibrosis, Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA. avicencio@nshs.edu
authors.forename: Alfin G
authors.initials: AG
authors.lastname: Vicencio
authors.forename: Geoffrey L
authors.initials: GL
authors.lastname: Chupp
authors.forename: Kalliope
authors.initials: K
authors.lastname: Tsirilakis
authors.forename: Xiaoxuan
authors.initials: X
authors.lastname: He
authors.forename: Aaron
authors.initials: A
authors.lastname: Kessel
authors.forename: Kiran
authors.initials: K
authors.lastname: Nandalike
authors.forename: Haviva
authors.initials: H
authors.lastname: Veler
authors.forename: Stacy
authors.initials: S
authors.lastname: Kipperman
authors.forename: Michael C
authors.initials: MC
authors.lastname: Young
authors.forename: David L
authors.initials: DL
authors.lastname: Goldman
mesh_terms: D000935:Antifungal Agents / Q000627:therapeutic use; D001249:Asthma / Q000235:genetics* / Q000276:immunology; D002648:Child; D002687:Chitin Synthase / Q000235:genetics*; D005658:Fungi / Q000276:immunology*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D017964:Itraconazole / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D012130:Respiratory Hypersensitivity / Q000150:complications*
chemical_list: D000935:Antifungal Agents; D017964:Itraconazole; D002687:Chitin Synthase