RESUMEN
BACKGROUND: Primary immunodeficiency disorders are genetically heterogeneous immune disorders with a wide range of infectious and non-infectious manifestations. OBJECTIVE: To describe a single-center experience of primary immunodeficiency disorders. DESIGN: Retrospective analysis from January 2015 to January 2020. SETTING: Tertiary care children's hospital. PARTICIPANTS: One hundred and twelve children (<18 years) diagnosed with primary immunodeficiency disorders. OUTCOME MEASURE: Diagnostic spectrum, clinical features, and outcome. RESULTS: The median (IQR) age of the first clinical manifestation and lag time in diagnosis was 10 (27) and 11 (18) months, respectively. Twenty-seven children (24%) were diagnosed during their first presentation. Thirty-six (32%) children had phagocytic disorders, 20 (17.8%) had combined/cellular defects, 18 (16%) had predominant antibody deficiencies and 17 (15%) had disorders of immune dysregulation. Non-infectious manifestations were seen in 54 (48%). Eight children underwent hematopoietic stem cell transplantation, 44 (39%) children were on antimicrobial prophylaxis and supportive therapy, 36 (32%) were lost to follow-up and 24 (21%) children died. CONCLUSION: Congenital defects of phagocyte function, followed by combined/cellular defects are the commonest primary immune deficiencies (PIDs) identified in southern India. Long lag time in diagnosis and high mortality in our cohort emphasizes the need for early diagnosis and early referral.