Author/Authors :
Darougar, Sepideh Pediatric Respiratory Diseases Research Center - National Research Institute of Tuberculosis and Lung Diseases (NRITLD) - Shahid Beheshti University of Medical Sciences - Tehran, Iran , Zeinab Mirzaee, Azadeh Department of Allergy and Clinical Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran Iran , Chavoshzadeh, Zahra Department of Allergy and Clinical Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran Iran , Mansouri, Mahboubeh Department of Allergy and Clinical Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran Iran , Babaie, Delara Department of Allergy and Clinical Immunology - Mofid Children’s Hospital - Shahid Beheshti University of Medical Sciences, Tehran Iran , Mesdaghi, Mehrnaz Shahid Beheshti University of Medical Sciences, Tehran Iran , Karimi, Abdollah Shahid Beheshti University of Medical Sciences, Tehran Iran , Armin, Shahnaz Shahid Beheshti University of Medical Sciences, Tehran Iran , Fahimzad, Alireza Shahid Beheshti University of Medical Sciences, Tehran Iran , Rafiee Tabatabaei, Sedigheh Shahid Beheshti University of Medical Sciences, Tehran Iran , Mansour Ghanaie, Roxana Shahid Beheshti University of Medical Sciences, Tehran Iran , Shiari, Reza Shahid Beheshti University of Medical Sciences, Tehran Iran , Tabatabaii, Ahmad Shahid Beheshti University of Medical Sciences, Tehran Iran , Khan Babaee, Ghamartaj Shahid Beheshti University of Medical Sciences, Tehran Iran , Sadr, Saeed Shahid Beheshti University of Medical Sciences, Tehran Iran , Hashemitari, Karen Tehran University of Medical Sciences - Tehran, Iran
Abstract :
Primary immunodeficiency disorders are a diverse group of rare genetic diseases that are often under-recognized.
Therefore, significant morbidities and mortalities ensue due to diagnosis delay. This is an evaluation of clinical presentations and
laboratory data of children referred to Mofid University Hospital during a 10-year period. The aim of this study is to provide epidemiologic
data for early diagnosis and proper management of these patients.
Methods: A total of 80 children referred to Mofid’s Children Hospital suspected to primary immunodeficiencies (PIDs) were evaluated
clinically. The demographic, clinical, and laboratory data were collected in detail and were analyzed as a cross-sectional study.
Missing data were completed in follow-up visits.
Results: The prevalence of antibody deficiencies, phagocytic defects, and combined immunodeficiencies in 80 children with primary
immunodeficiency syndromes were respectively 36.25%, 32.5%, and 31.25%. Common variable immunodeficiency (13.75%) and
severe combined immunodeficiency (12.5%) had the highest prevalence among these disorders and the lowest prevalence were reported
for cyclic neutropenia (5%), ataxia-telangiectasia (5%), and transient hypogammaglobulinemia of infancy (3.75%). The most
common mode of inheritance detected was an autosomal recessive pattern. Pneumonia, otitis media, and diarrhea were the most
common complications in the course of these disorders, which were seen respectively in 30%, 18.8%, and 15% of the patients.
Conclusions: Issues regarding clinical presentation and management of primary immunodeficiencies continue to puzzle the clinical
practitioner. Epidemiological data are needed to increase the awareness of the physicians regarding primary immunodeficiency
disorders and to support the benefits of early diagnosis and treatment. Diagnosis delay is associated with increased morbidities and
even mortalities.
