Journal of Clinical Immunology

, Volume 33, Issue 3, pp 507–512 | Cite as

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

  • Manisha Madkaikar
  • Anju Mishra
  • Mukesh Desai
  • Maya Gupta
  • Snehal Mhatre
  • Kanjaksha Ghosh
Original Research



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.


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.


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 %).


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.


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



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.


  1. 1.
    Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125:182–94.CrossRefGoogle Scholar
  2. 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.PubMedCrossRefGoogle Scholar
  3. 3.
    Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology. 2009; 127–31.Google Scholar
  4. 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.PubMedCrossRefGoogle Scholar
  5. 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.CrossRefGoogle Scholar
  6. 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.PubMedGoogle Scholar
  7. 7.
    Malaviya AN, Rajagopalan P, Taneja RL. Pattern of primary immunodeficiencies seen in India. J Assoc Physicians India. 1977;25:465–74.PubMedGoogle Scholar
  8. 8.
    Chandra RK, Ghai OP. Primary immunodeficiency states in Indian children. Indian J Med Res. 1976;64:68–75.PubMedGoogle Scholar
  9. 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.PubMedCrossRefGoogle Scholar
  10. 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.Google Scholar
  11. 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.PubMedCrossRefGoogle Scholar
  12. 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.PubMedCrossRefGoogle Scholar
  13. 13.
    Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27:517–24.PubMedCrossRefGoogle Scholar
  14. 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.PubMedGoogle Scholar
  15. 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.PubMedGoogle Scholar
  16. 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.PubMedCrossRefGoogle Scholar
  17. 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.PubMedCrossRefGoogle Scholar
  18. 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. 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. 20.
    Subbarayan A, Colarusso G, Hughes SM, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;127:810–6.PubMedCrossRefGoogle Scholar
  21. 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.PubMedCrossRefGoogle Scholar
  22. 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.CrossRefGoogle Scholar
  23. 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. 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.

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Manisha Madkaikar
    • 1
  • Anju Mishra
    • 1
  • Mukesh Desai
    • 2
  • Maya Gupta
    • 1
  • Snehal Mhatre
    • 1
  • Kanjaksha Ghosh
    • 1
  1. 1.Department of Paediatric Immunology and Leukocyte BiologyNational Institute of ImmunohaematologyMumbaiIndia
  2. 2.Department of ImmunologyBai Jerbai Wadia Hospital for ChildrenMumbaiIndia

Personalised recommendations