Abstract
Background: Primary immunodeficiency diseases (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system.
Objectives: To describe the clinical features, disease complications, treatment modalities and overall outcome of referral patients with Primary Immunodeficiency Diseases in Masih Daneshvari hospital during 2001-2008.
Methods: : Study was based on the review of the patient‘s medical records in order to obtain clinical, laboratory, and epidemiological data of patients admitted in the Pediatric Pulmonary Ward at NRITLD, a referral center for Tuberculosis and lung disease. The diagnosis was based upon WHO criteria for primary immunodeficiency disorders.
Results: In this research the collected data of 59 patients were evaluated and analyzed. There were 35 (59.3%) male and 24 (40.69%) female cases. The age of patients ranged from 6 months to 14/5 years and mean age was 7.4 years old. Positive family history was detected in 20 (33.9%) and parents of 36 patients (61.2%) were consanguineous. Twenty patients (33.9%) had a family history of PID. Phagocytic disorder (57.2%) was the most common form of PID, followed by antibody deficiency (33.7%), T-cell or combined deficiency (8.2%) and no case of complement deficiency was detected. In this group of under study, two patients (one 14-year old boy and one 11-year old girl) expired as a result of respiratory failure due to drug resistant pneumonia (in CGD cases).
Conclusion: Based on our result, Phagocytic disorders (57.2%) were the most common disorders in our PID patients. This may be due to frequent number of referred unknown CGD patients with pathologic finding of granuloma supposed to have tuberculosis.