1. Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience.
- Author
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Galal N, Meshaal S, Elhawary R, ElAziz DA, Alkady R, Lotfy S, Eldash A, Boutros J, and Elmarsafy A
- Subjects
- Age of Onset, Child, Child, Preschool, Delayed Diagnosis, Egypt epidemiology, Female, Genetic Association Studies, Genetic Heterogeneity, Genetic Predisposition to Disease, Genetic Testing methods, Hospitals, University, Humans, Immunologic Deficiency Syndromes epidemiology, Male, Mass Screening, Population Surveillance, Registries, Retrospective Studies, Consanguinity, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes genetics, Phenotype
- 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.
- Published
- 2016
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