Peer-reviewed article
Primary Immunodeficiency Disorders Among North Indian Children.
Devika Gupta, Deepshi Thakral, Prabin Kumar, Sushil K Kabra, Rakesh Lodha et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study describes primary immunodeficiency disorders (PIDs) among 528 children in North India, of whom 120 (23%) were diagnosed with PID. Children presented with chronic infections, persistent diarrhea, and failure to thrive, with an average diagnostic delay of 5 years from symptom onset. The most common types were combined immune deficiencies and phagocytic defects. The authors highlight that PIDs remain underdiagnosed in India due to lack of awareness and limited laboratory capacity.
Key points
- 23% of screened children (120 of 528) were diagnosed with primary immunodeficiency disorders
- Median age at diagnosis was 2.5 years in males and 3.5 years in females, with approximately 5-year average delay from symptom onset
- Most common types were combined humoral and cellular immunodeficiency (29%) and phagocytic defects (29%)
- Chronic lower respiratory tract infections, persistent diarrhea, and failure to thrive were key warning signs
- Family history of PID (23%), consanguineous marriage (8%), and previous sibling death (23%) were major clinical predictors
Limitations
This is a retrospective study of children already suspected of PID based on clinical presentation, so it does not establish the actual prevalence of PIDs in the general child population of North India. The study does not include follow-up data on outcomes after diagnosis and treatment.
Abstract
OBJECTIVES: To report the distribution pattern of various categories of primary immunodeficiency disorders (PIDs) in children from North India, frequency of warning signs and critical parameters for evaluation. METHODS: In this retrospective study, 528 children below 18 y of age after clinical assessment and presentation suggestive of PID were further screened by immunophenotyping for immune cell markers by flow cytometry. RESULTS: A total of 120 (23%) children were diagnosed with PID with median age at diagnosis being 2.5 y in males and 3.5 y in females and an average delay in diagnosis from onset of symptoms being approximately 5 y. Chronic lower respiratory tract infections, gastrointestinal symptoms like persistent diarrhea and failure to thrive were amongst the most common warning signs in these patients. PIDs were classified according to the International Union of Immunological Societies' (IUIS) criteria. The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), followed by predominantly antibody deficiency (18%), innate immunity and dysregulation (17%) and other well-defined syndromes (7%). A family history of PID (23%), consanguineous marriage (8%) and previous sibling death (23%) were observed as major clinical predictors/clues for underlying PID. All children received prophylactic antibiotics and/or antifungals in addition to specific therapy for underlying immune deficiency. CONCLUSIONS: The field of PIDs in India remains largely unexplored and we are faced with various challenges in the diagnosis of PIDs due to lack of awareness as well as absence of equipped immunological laboratory support. The authors propose a methodical step-wise laboratory diagnostic approach that can facilitate early diagnosis and timely intervention of these mis/underdiagnosed disorders.