הכינוס השנתי הדיגיטלי של החברה הישראלית לפדיאטריה קלינית - חיפ"ק 2021

Presence of ‘ACKR1/DARC null’ polymorphism in Arabs from Jisr az-Zarqa with Benign Ethnic Neutropenia

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1Division of Pediatric Hematology-Oncology, Laniado Medical Center
2Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center

Benign ethnic neutropenia can often lead to unnecessary investigations in healthy individuals. This study describes the presence of the ACKR1 polymorphism within a socially closed Arab community in Israel. Neutrophil counts and genomic DNA of 2 index cases that presented with neutropenia on routine laboratory tests and 32 of their related family members were analyzed. 64.7% of participants were neutropenic (mean neutrophil count 2.35 K/uL) and 95% of the subjects with neutropenia and genomic DNA available carried the ACKR1 null- genotype. This suggests a strong correlation between the two (p < 0. 01). A difference in WBC count was also observed between the homozygous and heterozygous ACKR1 polymorphism sub-groups (5.68 K/uL vs. 8.35 K/uL respectively, p < 0.001).