title: A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl.
abstract: We report the case of a 12-year-old girl with an allergic bronchopulmonary aspergillosis (ABPA), intermediate sweat chloride tests and one cystic fibrosis (CF)-causing mutation, p.Phe508del. After extensive screening of the CF transmembrane regulator (CFTR) gene, she finally was found to carry a rare deep intronic mutation (c.872-1110_1113delGAAT), which confirmed the atypical mild CF disease. Although a classical steroid treatment did not allow the healing of the ABPA, an omalizumab therapy led to a long-term recovery. This case emphasises the need to search for rare CFTR gene mutations as far as possible when a CF disease is evocated. Moreover, it also highlights that although omalizumab is not yet recognised as a classical ABPA treatment in CF, it should be considered as an alternative therapy in steroid-resistant patients.
authors.affiliation: Department of Pediatric Pulmunology, AP-HP Hôpital Armand Trousseau, Paris, France - INSERM UMR S-938.
authors.forename: Nadia
authors.initials: N
authors.lastname: Nathan
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Girodon
authors.forename: Annick
authors.initials: A
authors.lastname: Clement
authors.forename: Harriet
authors.initials: H
authors.lastname: Corvol
mesh_terms: D018926:Anti-Allergic Agents / Q000627:therapeutic use; D000888:Antibodies, Anti-Idiotypic / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D001229:Aspergillosis, Allergic Bronchopulmonary / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004351:Drug Resistance; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007438:Introns; D009154:Mutation; D000069444:Omalizumab; D010641:Phenotype; D012720:Severity of Illness Index; D013256:Steroids / Q000627:therapeutic use
chemical_list: D018926:Anti-Allergic Agents; D000888:Antibodies, Anti-Idiotypic; D061067:Antibodies, Monoclonal, Humanized; C505032:CFTR protein, human; D013256:Steroids; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D000069444:Omalizumab