Resumen de Pulmonary manifestations in a cohort of patients with inborn errors of immunity: An 8-year follow-up study
Mahshid Movahedi, Mahnaz Jamee, Hosseinali Ghaffaripour, Farzad Noori, Mehdi Ghaini, Shabnam Eskandarzadeh, Javad Enayat, Golnaz Eslamian, Guitti Pourdowlat, Niusha Sharifinejad, Mihan Poorabdollah, Seyed Alireza Nadji, Mazdak Fallahi, Zahra Daneshmandi, Jalal Heshmatnia, Alireza Eslaminejad, Atefeh Fakharian, Maryam Vasheghani, Afshin Moniri, Maryam Sadat Mirenayat, Payam Tabarsi, Majid Marjani, Nima Rezaei, Mikko Seppanen, Davood Mansouri, Seyed Alireza Mahdaviani, Ali Akbar Velayati
Background Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs.
Methods Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable.
Results Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD). . Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups.
Conclusions Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities.
