Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study

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Mahshid Movahedi
Mahnaz Jamee https://orcid.org/0000-0002-0732-9170
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 R. J. Seppänen
Davood Mansouri
Seyed Alireza Mahdaviani
Ali Akbar Velayati


inborn errors of immunity, primary immunodeficiency, respiratory tract infections, pulmonary, CT, PFT


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.

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