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

• Mahshid Movahedi ^[3] ; Mahnaz Jamee ^[4] ; Hosseinali Ghaffaripour ^[3] ; Farzad Noori ^[3] ; Mehdi Ghaini ^[1] ; Shabnam Eskandarzadeh ^[1] ; Javad Enayat ^[3] ; Golnaz Eslamian ^[1] ; Guitti Pourdowlat ^[1] ; Niusha Sharifinejad ^[5] ; Mihan Poorabdollah ^[3] ; Seyed Alireza Nadji ^[3] ; Mazdak Fallahi ^[3] ; Zahra Daneshmandi ^[3] ; Jalal Heshmatnia ^[3] ; Alireza Eslaminejad ^[3] ; Atefeh Fakharian ^[3] ; Maryam Vasheghani ^[3] ; Afshin Moniri ^[3] ; Maryam Sadat Mirenayat ^[3] ; Payam Tabarsi ^[6] ; Majid Marjani ^[6] ; Nima Rezaei ^[2] ; Mikko R. J. Seppänen ^[7] ; Davood Mansouri ^[8] ; Seyed Alireza Mahdaviani ^[3] ; Ali Akbar Velayati ^[3]
  1. [1] Shahid Beheshti University of Medical Sciences

     Shahid Beheshti University of Medical Sciences

     Irán

     
  2. [2] Tehran University of Medical Sciences

     Tehran University of Medical Sciences

     Irán

     
  3. [3] Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  4. [4] Pediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  5. [5] Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran.
  6. [6] Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  7. [7] Rare Disease and Pediatric Research Centers, Hospital for Children and Adolescents and Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
  8. [8] Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran; Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 50, Nº. 1, 2022, págs. 80-84
• Idioma: inglés
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  • 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.