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



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.


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.


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


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 %).


PIDs have different patterns within inbred populations with high consanguinity.

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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

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Correspondence to Nermeen Galal.

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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).

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