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Diagnostic Spectrum and Clinical Profile of Primary Immunodeficiency Disorders at a Tertiary Care Children Hospital

Meena Sivasankaran1, Deenadayalan Munirathnam2, S Balasubramanian3

  • 1Department of Pediatric Hemato-Oncology, Kanchi Kamakoti CHILDS Trust Hospital, Numgambakkam, Chennai, India. Correspondence to: Dr Meena Sivasankaran, Kanchi Kamakoti CHILDS Trust Hospital, 12A Nageswara Road, Nungamabkkam, Chennai 600 034, India. meenasankaran04@gmail.com.

Indian Pediatrics
|March 13, 2021
PubMed

Insights

Primary immunodeficiency disorders (PIDs) in children are diverse genetic immune defects. Early diagnosis and referral are crucial due to a significant diagnostic delay and high mortality observed in this study.

Area of Science:

  • Immunology
  • Pediatrics
  • Genetics

Background:

  • Primary immunodeficiency disorders (PIDs) are a group of genetically heterogeneous conditions affecting the immune system.
  • These disorders present with a wide spectrum of infectious and non-infectious clinical manifestations.

Purpose of the Study:

  • To characterize the diagnostic spectrum, clinical features, and outcomes of primary immunodeficiency disorders in children.
  • To highlight the challenges in diagnosing PIDs and identify areas for improvement.

Main Methods:

  • A retrospective analysis of 112 children (<18 years) diagnosed with PIDs was conducted.
  • Data were collected from January 2015 to January 2020 at a tertiary care children's hospital.
  • Outcome measures included diagnostic categories, clinical presentations, and patient outcomes.

Main Results:

  • The most common PIDs were phagocytic disorders (32%), followed by combined/cellular defects (17.8%).
  • A significant lag time in diagnosis was observed (median 11 months), with only 24% diagnosed at first presentation.
  • High mortality (21%) and loss to follow-up (32%) were noted, alongside non-infectious manifestations in 48% of patients.

Conclusions:

  • Congenital defects in phagocyte function and combined/cellular defects are the most prevalent PIDs in southern India.
  • The study underscores the critical need for earlier diagnosis and prompt referral to mitigate the high mortality rates associated with PIDs.
Abstract

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