CHIT1 mutations: genetic risk factor for severe asthma with fungal sensitization?
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.
Vicencio
Alfin G
AG
Division of Pediatric Pulmonology and Cystic Fibrosis, Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA. avicencio@nshs.edu
Chupp
Geoffrey L
GL
Tsirilakis
Kalliope
K
He
Xiaoxuan
X
Kessel
Aaron
A
Nandalike
Kiran
K
Veler
Haviva
H
Kipperman
Stacy
S
Young
Michael C
MC
Goldman
David L
DL
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*
D000935:Antifungal Agents; D017964:Itraconazole; D002687:Chitin Synthase