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

Eaton, Tam; Miller, Patrice W.; Garrett, Jeffrey; Cutting, Garry R.

doi:10.1046/j.1365-2222.2002.01361.x

Cited by 57 publications

(35 citation statements)

References 33 publications

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“…ABPA is very common in CF, affecting approximately 15% of all patients (20,21). It is occasionally seen in patients with asthma, although some studies have shown that up to 50% of patients with asthma with ABPA have at least one mutation in the CFTR gene (22)(23)(24)(25). The immune response in ABPA appears to exemplify the IL-4-driven, T helper cell (Th) type 2-predominant response that is seen in patients with CF and in the Cftr mutant mouse expression profiling studies (26)(27)(28)(29).…”

mentioning

confidence: 99%

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Mueller¹,

Braag²,

Keeler³

et al. 2011

Am J Respir Cell Mol Biol

117

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confidence: 99%

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Mueller¹,

Braag²,

Keeler³

et al. 2011

Am J Respir Cell Mol Biol

117

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“…In a genetically predisposed individual [9,10], inhaled conidia of A fumigatus persist and germinate into hyphae with release of antigens that compromise the mucociliary clearance, stimulate and breach the airway epithelial barrier, and activate the innate immunity of the lung [11,12].…”

Section: Discussionmentioning

confidence: 99%

Allergic Bronchopulmonary Aspergillosis: A Diagnostic Challenge

Pokhare

Ylagan²,

Cheney³

2014

J Cytol Histol

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Allergic bronchopulmonary aspergillosis (ABPA) is an immunologic condition that results from an allergic immune response to Aspergillus fumigatus, most often occurring in a patient with bronchial asthma or cystic fibrosis. ABPA is diagnosed by constellation of clinical, laboratory, and radiographic criteria. In the absence of typical presentation, ABPA can be misdiagnosed. Our patient presented with a 3 cm right lower lobe lung mass and sub-centimeter right upper lobe lung nodules. The clinical features led to a presumptive diagnosis of lung carcinoma. The patient underwent preoperative bronchial washing and endobronchial biopsy. The washing sample showed large amount of thick mucus containing abundant eosinophils, Charcoat-Leyden crystals, and degenerated cellular debris consistent with "allergic mucin". These findings were initially overlooked and considered non-specific. Repeat sampling (needle biopsy) showed marked reactive pneumocyte hyperplasia in the background of inflammation, which was misdiagnosed as adenocarcinoma with lepidic growth pattern. The correct diagnosis was made only after the surgical resection of the lesion. Diagnosis of ABPA can be missed due to general unfamiliarity with this entity and its clinical presentation similar to the lung tumor. Accurate diagnosis can be derived from the bronchial washing if the features of "allergic mucin" are recognized and confirmed with microbiological examination.

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“…It is increasingly recognized that mutations in the CFTR gene play a role in a variety of diseases other than classic CF, including CBAVD, 18 chronic pancreatitis, 19 disseminated bronchiectasis, 20 and allergic pulmonary aspergillosis. 21 The CF APEX array can serve as the initial research tool to screen for mutations in these diseases, coupled with other more comprehensive but labor-and capital-intensive technologies if results are negative. As other important disease-contributive CFTR mutations are identified, these can be added to the CF APEX array for routine analysis.…”

Section: Discussionmentioning

confidence: 99%

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations

Schrijver

Oitmaa

Metspalu

et al. 2005

The Journal of Molecular Diagnostics

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Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable frequency. Recent national guidelines suggest that all couples contemplating pregnancy should be informed of molecular screening for CF carrier status for purposes of genetic counseling. Commercially available CF carrier screening panels offer a limited panel of mutations, however, making them insufficiently sensitive for certain groups within an ethnically diverse population. This discrepancy is even more pronounced when such carrier screening panels are used for diagnostic purposes. By means of arrayed primer extension technology, we have designed a genotyping microarray with 204 probe sites for CF transmembrane conductance regulator gene mutation detection. The arrayed primer extension array, based on a platform technology for disease detection with multiple applications, is a robust, costeffective, and easily modifiable assay suitable for CF carrier screening and disease detection. (J Mol Diagn 2005, 7:375-387)

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

Abstract: These results lend further support to a possible link between CF mutations and ABPA.

Cited by 57 publications

References 33 publications

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Allergic Bronchopulmonary Aspergillosis: A Diagnostic Challenge

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations

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

Abstract: These results lend further support to a possible link between CF mutations and ABPA.

Cited by 57 publications

References 33 publications

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3+Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3+Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Allergic Bronchopulmonary Aspergillosis: A Diagnostic Challenge

Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations

Contact Info

Product

Resources

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Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses

Lack of Cystic Fibrosis Transmembrane Conductance Regulator in CD3⁺Lymphocytes Leads to Aberrant Cytokine Secretion and Hyperinflammatory Adaptive Immune Responses