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

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Abstract

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.

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Acknowledgements

Dr Bala Ramachandran, Dr Janani Sankar, Dr Lalitha Janakiraman, Dr T. Ravikumar, Dr T Vasanthi, Dr KG Ravikumar, Dr S Sivabalan, Dr S Srinivas and Dr Chandra Kumar, for their support in diagnosis and management. Dr Manisha madkaikar and her team at National Institute of Immuno-Hematology for helping in flow cytometry.

Author information

Authors and Affiliations

  1. Department of Pediatric Hemato-Oncology, Kanchi Kamakoti CHILDS Trust Hospital, 12A Nageswara Road, Numgambakkam, Chennai, 600 034, India

    Meena Sivasankaran, Deenadayalan Munirathnam, Rishab Bharadwaj & Vimal Kumar

  2. Department of Pediatric Infectious Disease, Kanchi Kamakoti CHILDS Trust Hospital, Numgambakkam, Chennai, India

    S. Balasubramanian, Silky Agrawal, Sanjay Deshpande & K. Dhanalakshmi

Authors
  1. Meena Sivasankaran
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  2. Deenadayalan Munirathnam
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  3. S. Balasubramanian
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  4. Silky Agrawal
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  5. Sanjay Deshpande
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  6. Rishab Bharadwaj
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  7. K. Dhanalakshmi
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  8. Vimal Kumar
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Corresponding author

Correspondence to Meena Sivasankaran.

Additional information

Ethical Clearance

Ethucs Committee of KK CHILDS Trust Hsopital and the CHILDS Trust Medical Research Foundation; No. IEC-52/May 2020, dated 8 December, 2020.

Contributors

MS: analyzed the data, outcome assessment and prepared the manuscript; DM: managed the cases and analyzed data; SBS: contributed to patient management, critical analysis of the manuscript and editing; SA, SD, RB: collected and analyzed the data; DK, VK: contributed to the patient management and writing of the manuscript.

Funding

None

Competing interest

None stated.

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Sivasankaran, M., Munirathnam, D., Balasubramanian, S. et al. Diagnostic Spectrum and Clinical Profile of Primary Immunodeficiency Disorders at a Tertiary Care Children Hospital in Southern India. Indian Pediatr 58, 246–249 (2021). https://doi.org/10.1007/s13312-021-2164-z

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  • DOI: https://doi.org/10.1007/s13312-021-2164-z

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