TY - JOUR T1 - Hemoptysis in a teenager: A rare case of bronchiectasis in autoimmune polyendocrinopathy type I syndrome JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P828 AU - Salvatore Talamo AU - Gianfranco Pancosta AU - Roberto Giaffreda AU - Stefania Maria Tozzoli AU - Mattia Toma Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P828.abstract N2 - Data indicates a very low incidence of lung disease in patients with autoimmune polyendocrinopathytype I syndrome called Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). It is an autosomal recessive disease caused by mutations in the AIRE gene involved in the education process that involves thymic lymphocyte and causes a defect in the maturation of regulatory T cells to peripheral antigens. This causes high susceptibility to autoimmune manifestations in relation to various organs, endocrine or not. The sporadic but severe respiratory manifestations (9 cases out of 110 reported) seem related to the detection of autoantibodies against a potassium channel regulator expressed in the bronchial epithelium: in 7 out of the 9 cases with pulmonary manifestations these autoantibodies were detected, and in only 4 cases,bronchiectasis has been reported. The 16-year-old teenager under study, showed sequential analysis of the entire gene AIRE with 2 molecular defects: mutation W78R, peculiar of Apulian patients (southern Italy) with APECED and, in combination with this, the deletion of 2 codons (22 and 23) located in the first exon of the gene included in the HSR domain protein, not yet described in the literature. The patient's parents, asymptomatical, were both carriers of the same mutation W78R; the father was also carrier of the deletion cod22 and 23. The occurrence of hemoptysis required the execution of a CT scan that showed the presence of cylindrical bronchiectasis and of a otolaryngology control which confirmed a sinusitis, undetected until that date. BAL allowed us to identify a bacterial colonization of bronchiectasis with Pseudomonas aeruginosa. ER -