Primary Immunodeficiency Disorders Among North Indian Children
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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.
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.
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.
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.
KeywordsPrimary immunodeficiencies X-linked agammaglobulinemia Common variable immune deficiency Hyper IgM syndrome Severe combined immune deficiency Leukocyte adhesion deficiency DHR
The authors thank the study subjects, for providing samples and supporting this work; the participating clinical staff, for their dedication to this research; Ms. Poonam, Ms. Jyoti, Mr. Pankaj, Mr. Anoop (Department of Transplant Immunology and Immunotherapeutics, All India Institute of Medical Sciences), for their help in processing of samples.
DG and DT: Concepts, design, definition of intellectual content, literature search, experimental studies, data analysis, manuscript preparation, editing, and review; SKK: Concepts, design, definition of intellectual content, experimental studies, data analysis, manuscript preparation and review; RL: Concepts, definition of intellectual content, clinical studies, manuscript editing, and review; NB: Design, literature search, experimental studies, data acquisition and analysis and manuscript preparation and review; SKM: Concepts, definition of intellectual content, clinical and experimental studies, data analysis, manuscript preparation and review; PK and RK: Definition of intellectual content, clinical and experimental studies, data analysis, manuscript preparation; SC: Definition of intellectual content, clinical studies, manuscript preparation, editing, and review; DKM: Concepts, design, definition of intellectual content, manuscript preparation, editing and review. DKM is the guarantor for this paper.
Compliance with Ethical Standards
Conflict of Interest
Source of Funding
Institutional (AIIMS, New Delhi, India).
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