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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
CHIT1 mutations: genetic risk factor for severe asthma with fungal sensitization?
Alfin G Vicencio1, Geoffrey L Chupp, Kalliope Tsirilakis
1Division of Pediatric Pulmonology and Cystic Fibrosis, Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA. avicencio@nshs.edu
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.
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