Abstract
INTRODUCTION: Early diagnosis and treatment are keys to improve survival of patients with primary immunodeficiency diseases (PID). The clinical characteristics of these patients in Thailand were not well defined. OBJECTIVE: This study aimed to determine the clinical characteristics and outcomes of patients with PID in Thailand. METHODS: Medical records of PID patients in the past 18 years were reviewed. RESULTS: Sixty-seven children were registered. Antibody deficiencies were the most common PID (52.2%), followed by combined T cell and B cell immunodeficiencies (25.4%), other well-defined immunodeficiency syndromes (11.9%), and phagocytic defects (10.4%). The most common presentations of antibody deficiencies, combined T cell and B cell immunodeficiencies, and phagocytic defects were infection in the upper respiratory tract (74.3%), gastrointestinal tract (82.4%), and skin (85.7%), respectively. The highest mortality rate (52.9%) was found in severe combined immunodeficiency. CONCLUSION: These results provide clinical features of PID in Thailand. Knowing these features will lead to prompt diagnosis and appropriate management.