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

Abstract

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.

Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene

“…CXR or CT imaging may raise the risk of cancer in Artemis patients due to radiosensitivity and DNA repair deficiencies. Therefore, a preliminary assessment based on clinical features and pulmunary function test (PFT) patterns prior to imaging is advised [ 25 , 26 ]. The diversity in the clinical and laboratory features of Artemis deficiency may challenge the early diagnosis of patients and lead to irreversible life-threatening sequelae.…”

Comparison of pulmonary lesions using lung ultrasound and high-resolution computed tomography in adult patients with primary humoral immunodeficiencies

“…It is estimated that asthma occurs in 31.2% of patients with CVID and 10.3% of patients with XLA (6). Bronchiectasis occurs in 25 to 79% of patients with PADs (7)(8)(9). Less common is interstitial lung disease (ILD), described mainly in patients with CVID (10-20%) (8).…”

“…The rarest non-infectious complication is malignancy. The most common are lymphomas, the incidence of which is estimated at less than 10% of patients ( 9 ).…”