TY - JOUR T1 - Pneumocystosis revealing immunodeficiency secondary to <em>TERC</em> mutation JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.01443-2017 VL - 50 IS - 5 SP - 1701443 AU - Raphael Borie AU - Caroline Kannengiesser AU - Flore Sicre de Fontbrune AU - David Boutboul AU - Laure Tabeze AU - Florence Brunet-Possenti AU - Elodie Lainey AU - Marie Pierre Debray AU - Aurélie Cazes AU - Bruno Crestani Y1 - 2017/11/01 UR - http://erj.ersjournals.com/content/50/5/1701443.abstract N2 - Telomerase-related gene (TRG) mutations are evidenced in about 25% of patients with familial pulmonary fibrosis, and less frequently in sporadic interstitial lung disease (ILD) [1]. Even though TRG mutations can be associated with haematological, hepatic and cutaneous manifestations, most adult ILD patients with TRG mutations only present asymptomatic extrapulmonary involvement such as thrombocytopenia or premature hair greying [2]. However, some specific extrapulmonary manifestations such as immunodeficiency or portal hypertension can be severe and need early detection. We report herein the case of a patient with primary immunodeficiency revealed by pneumocystosis, which could have been misdiagnosed as an idiopathic acute exacerbation of ILD.TERC mutation may be associated with a primary immunodeficiency http://ow.ly/zY7b30fWbD9 ER -