Skip to main content

Comprehensive Report of Primary Immunodeficiency Disorders from a Tertiary Care Center in India

Journal of Clinical Immunology volume 33, pages 507–512 (2013)Cite this article

Abstract

Objectives

There is paucity of data on Primary immunodeficiency disorders (PID) from India. Here we describe the frequency of different primary immunodeficiency disorders, their clinical features and disease complications of 159 patients with PID diagnosed in a tertiary care center from India over the last 3 years.

Methods

We retrospectively reviewed the records of all the patients identified to have specific PID from 2008 to 2011. The diagnosed patients were classified according to guidelines of International Union of Immunological Society (IUIS) into eight different sub groups.

Results

The distribution pattern was as follows: diseases of immune dysregulation (29 %), phagocytic defects (29 %), predominant antibody deficiency (13 %), combined T and B cell deficiency (19 %) and other well defined diseases (10 %).

Conclusion

The distribution pattern of PID varied significantly from those reported by western studies. This study highlights the need for development of more advanced facilities for diagnosis and management of PID in India and also the need for establishing population and hospital based registries.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  1. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125:182–94.

    Article  Google Scholar 

  2. Conley ME, Notarangelo LD, Casanova JL. Definition of primary immunodeficiency in 2011: a "trialogue" among friends. Ann N Y Acad Sci. 2011;1238:1–6.

    PubMed  Article  Google Scholar 

  3. Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology. 2009; 127–31.

  4. Woellner C, Gertz EM, Schäffer AA, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125:424–32.

    PubMed  Article  CAS  Google Scholar 

  5. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2011;2:1–26.

    Article  Google Scholar 

  6. Datta U, Kumar L, Mehta S, et al. Primary immunodeficiency defects seen in PGI–one year study. J Assoc Physicians India. 1984;32:701–4.

    PubMed  CAS  Google Scholar 

  7. Malaviya AN, Rajagopalan P, Taneja RL. Pattern of primary immunodeficiencies seen in India. J Assoc Physicians India. 1977;25:465–74.

    PubMed  CAS  Google Scholar 

  8. Chandra RK, Ghai OP. Primary immunodeficiency states in Indian children. Indian J Med Res. 1976;64:68–75.

    PubMed  CAS  Google Scholar 

  9. Verma S, Sharma PK, Sivanandan S, et al. Spectrum of primary immune deficiency at a tertiary care hospital. Indian J Pediatr. 2008;75:143–8.

    PubMed  Article  Google Scholar 

  10. Sudhir Gupta, Manisha Madkaikar, Surjit Singh, et al. Primary immunodeficiencies in India: a perspective. Annals of the New York Academy of Sciences. 2012; 1250:7.

  11. Gathmann B, Grimbacher B, Beauté J, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol. 2009;157:3–11.

    PubMed  Article  Google Scholar 

  12. Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol. 1997;100:415–23.

    PubMed  Article  CAS  Google Scholar 

  13. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27:517–24.

    PubMed  Article  CAS  Google Scholar 

  14. Farhoudi A, Aghamohammadi A, Moin M, et al. Distribution of primary immunodeficiency disorders diagnosed in the Children's Medical Center in Iran. J Investig Allergol Clin Immunol. 2005;15:177–82.

    PubMed  CAS  Google Scholar 

  15. Lim DL, Thong BY, Ho SY, et al. Primary immunodeficiency diseases in Singapore–the last 11 years. Singapore Med J. 2003;44:579–86.

    PubMed  CAS  Google Scholar 

  16. Leiva LE, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID1 Registry. J Clin Immunol. 2007;27:101–8.

    PubMed  Article  Google Scholar 

  17. Joshi AY, Iyer VN, Hagan JB, et al. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84:16–22.

    PubMed  Article  Google Scholar 

  18. Lee TL, Chan GCF, Ha SY, et al. A single center experience of primary immunodeficiencies in Hong Kong. HK J Paediatr (New Series). 1999;4:16–20.

    Google Scholar 

  19. Golan H, Dalal I, Garty B-Z, et al. The incidence of primary immunodeficiency syndromes in Israel. Clinical Immunology and Allergy. 2002;4:868–71.

    Google Scholar 

  20. Subbarayan A, Colarusso G, Hughes SM, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;127:810–6.

    PubMed  Article  Google Scholar 

  21. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011;1238:7–14.

    PubMed  Article  Google Scholar 

  22. van de Vijver E, Maddalena A, Sanal Ö. Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Molecules and Diseases. 2011;48:53–61.

    Article  Google Scholar 

  23. Madkaikar MR, Kulkarni S, Utage P, et al. Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. BMJ Case Rep. 2011. doi:10.1136/bcr.09.2011.4804.

  24. Madkaikar MR, Gupta M, Rao M, et al. Prenatal diagnosis of LAD-I on cord blood by flowcytometry. Indian J Pediatr. 2012. doi:10.1007/s12098-012-0737-5.

Download references

Acknowledgement

Authors want to acknowledge the constant guidance by Dr Bobby Gaspar, Institute of Child Health, London and Dr Kimberly Gilmour, Great Ormond Street Hospital in establishing facility for diagnosis and management of PID at our institute. Authors also want to acknowledge the inspiration and constant guidance provided by Dr Zenet Currimbhoy, Bai Jerbai Wadia Hospital for Children, Mumbai

Contributor’s Statement

MM and KG conceptualized the paper. AM, SM and MG helped in laboratory assessment of the patients. MM and AM prepared the manuscript. MD helped in clinical diagnosis and management of the patients. Finally the manuscript has been approved by all.

Author information

Affiliations

  1. Department of Paediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology, 13th floor, NMS Bldg, KEM Hospital, Parel, Mumbai, 400012, India

    Manisha Madkaikar, Anju Mishra, Maya Gupta, Snehal Mhatre & Kanjaksha Ghosh

  2. Department of Immunology, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg Parel, Mumbai, 400012, India

    Mukesh Desai

Authors
  1. Manisha Madkaikar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anju Mishra
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mukesh Desai
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Maya Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Snehal Mhatre
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Kanjaksha Ghosh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Manisha Madkaikar.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Madkaikar, M., Mishra, A., Desai, M. et al. Comprehensive Report of Primary Immunodeficiency Disorders from a Tertiary Care Center in India. J Clin Immunol 33, 507–512 (2013). https://doi.org/10.1007/s10875-012-9829-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-012-9829-2

Keywords

  • Primary immunodeficiency disorders
  • SCID
  • antibody deficiency
  • phagocytic defects
  • diseases of immune dysregulation