Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience
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Published on: June 1, 2017
Nermeen Galal1, Safa Meshaal2, Rabab Elhawary2
1Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. Nermeen.galal@kasralainy.edu.eg.
Insights
Primary immunodeficiency disorders (PIDs) present differently in consanguineous populations. This study in Egypt found combined immunodeficiency disorders were most common among children with PIDs.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Primary immunodeficiency disorders (PIDs) are a diverse group of genetic conditions.
- PIDs often manifest as recurrent, severe infections in childhood.
- Global variations in PID patterns exist between Western and Eastern populations.
Observation:
- This study investigated PID patterns in a highly consanguineous Egyptian population.
- A retrospective chart review was conducted for children under 18 diagnosed with PID between 2010 and 2014.
- Cairo University Pediatric Hospital served as the data source.
Findings:
- A total of 476 children were diagnosed with PID.
- Combined immunodeficiency disorders were the most prevalent category (30%).
- Other significant categories included predominantly antibody disorders (18%), syndromic combined disorders (16.8%), phagocytic disorders (13.2%), immune dysregulation disorders (10.5%), and autoinflammatory disorders (9%).
Implications:
- PID patterns differ significantly in populations with high consanguinity.
- Understanding these specific patterns is crucial for accurate diagnosis and management in similar populations.
- Further research into genetic factors influencing PID prevalence in consanguineous communities is warranted.
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.
