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Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital’s 5-Year Experience

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Abstract

Introduction

Primary immunodeficiency disorders (PIDs) are heterogeneous disorders that mainly present with severe, persistent, unusual, or recurrent infections in childhood. Reports from different parts of the world indicate a difference between Western and Eastern populations.

Aim

The aim of this study was to report on the different patterns of PIDs and identify subgroup characteristics in a highly consanguineous population in Egypt.

Methods

We performed a retrospective chart review for children below 18 years diagnosed with PID at Cairo University Pediatric Hospital from 2010 to 2014.

Results

Four hundred seventy-six children were diagnosed with PID disorders. Major categories included combined immunodeficiency disorders, which constituted a large proportion (30 %) of cases, along with predominantly antibody disorders (18 %) followed by syndromic combined disorders (16.8 %), phagocytic disorders (13.2 %), immune dysregulation disorders (10.5 %), and autoinflammatory disorders (9 %).

Conclusion

PIDs have different patterns within inbred populations with high consanguinity.

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Acknowledgments

The authors wish to acknowledge the following scientists for their valuable support and provision of expertise to aid the diagnosis of our children:

M. Baker, J. Bustamanate, J.L. Casanova, T. Freiberger, R. Geha, B. Grimbacher, J. Litzman, M. Masaad, A. Villa

Author information

Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt

    Nermeen Galal, Dalia Abd ElAziz, Radwa Alkady, Sohilla Lotfy, Jeanette Boutros & Aisha Elmarsafy

  2. Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt

    Safa Meshaal, Rabab Elhawary & Alia Eldash

Authors
  1. Nermeen Galal
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  2. Safa Meshaal
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  3. Rabab Elhawary
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  4. Dalia Abd ElAziz
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  5. Radwa Alkady
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  6. Sohilla Lotfy
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  7. Alia Eldash
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  8. Jeanette Boutros
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  9. Aisha Elmarsafy
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Corresponding author

Correspondence to Nermeen Galal.

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The authors declare that they have no conflict of interest.

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Galal, N., Meshaal, S., Elhawary, R. et al. Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital’s 5-Year Experience. J Clin Immunol 36, 649–655 (2016). https://doi.org/10.1007/s10875-016-0314-1

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  • DOI: https://doi.org/10.1007/s10875-016-0314-1

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