Pneumocystosis revealing immunodeficiency secondary to TERC mutation. Issue 5 (23rd November 2017)

• Record Type: Journal Article
• Authors: Borie, Raphael; Kannengiesser, Caroline; Sicre de Fontbrune, Flore; Boutboul, David; Tabeze, Laure; Brunet, Florence; Lainey, Elodie; Debray, Marie Pierre; Cazes, Aurélie; Crestani, Bruno
• Is Part Of: European respiratory journal. Volume 50:Issue 5(2017)
• Publication Date: 2017-11-23
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiration -- Periodicals; 616.2
• DOI: 10.1183/13993003.01443-2017
• Languages: English
• ISSNs: 0903-1936

Abstract

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