Cystic fibrosis transmembrane conductance regulator gene mutations: do they play a role in the aetiology of allergic bronchopulmonary aspergillosis?

Autor:	Garry R. Cutting, P. Weiner Miller, J. E. Garrett, T. E. Eaton
Rok vydání:	2002
Předmět:	education.field_of_study Allergy Immunology Population Gene mutation Biology Aspergillosis medicine.disease Cystic fibrosis transmembrane conductance regulator Immunopathology medicine biology.protein Immunology and Allergy Allergic bronchopulmonary aspergillosis ΔF508 education
Zdroj:	Clinical & Experimental Allergy. 32:756-761
ISSN:	0954-7894
DOI:	10.1046/j.1365-2222.2002.01361.x
Popis:	Summary Background Previous work suggests that cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations may be implicated in the aetiology of allergic bronchopulmonary aspergilosis (ABPA). Objective To compare the frequency of CF gene mutations in asthmatics with ABPA of varying severity with asthmatics who were skin prick test (SPT)-positive to Aspergillus fumigatus (Af) without evidence of ABPA and asthmatics SPT-negative to Af. Methods Thirty-one Caucasian patients with ABPA were identified, together with asthmatics SPT positive to Af without evidence of ABPA (n = 23) and SPT negative to Af (n = 28). Genomic DNA was tested for 16 CF mutations accounting for approximately 85% of CF alleles in Caucasian New Zealanders. Results Four (12.9%) ABPA patients were found to be carriers of a CF mutation (ΔF508 n = 3, R117H n = 1), one (4.3%) asthmatic SPT positive to Af without ABPA (ΔF508), and one (3.6%) asthmatic SPT negative to Af (R117H). All patients with a CF mutation had normal sweat chloride (
Databáze:	OpenAIRE
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