TY - JOUR T1 - A rare <em>CFTR</em> intronic mutation related to a mild CF disease in a 12-year-old girl JF - BMJ Case Reports DO - 10.1136/bcr-2012-006918 VL - 2012 SP - bcr2012006918 AU - Nadia Nathan AU - Emmanuelle Girodon AU - Annick Clement AU - Harriet Corvol Y1 - 2012/11/09 UR - http://casereports.bmj.com/content/2012/bcr-2012-006918.abstract N2 - 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. ER -