Registry of Clinical Data and Laboratory Findings in 80 Patients with Primary Immunodeficiencies in Mofid Children Hospital

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.
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.
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.
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.