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A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl
  1. Nadia Nathan1,
  2. Emmanuelle Girodon2,
  3. Annick Clement1,
  4. Harriet Corvol1
  1. 1Department of Pediatric Pulmunology, AP-HP Hôpital Armand Trousseau, Paris, France – INSERM UMR S-938
  2. 2Department of Biochemistry-Genetics, AP-HP, Groupe hospitalier Henri Mondor, Créteil, France - INSERM, U955 équipe 11
  1. Correspondence to Professor Annick Clement, annick.clement{at}trs.aphp.fr

Summary

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.

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