期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 36, 期 7, 页码 649-655出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-016-0314-1
关键词
Primary immunodeficiency disorders; consanguineous populations; patterns; children
类别
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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