AI Article Synopsis

  • ACKR1/DARC-associated neutropenia (ADAN) is a common benign blood condition, primarily affecting people of African and Jewish Yemenite descent, caused by a specific genetic variant.
  • A study conducted in Israel from 2018-2023 assessed 115 children with isolated neutropenia, finding that 42.6% had ADAN, with a significant portion presenting severe neutropenia.
  • The research suggests that ADAN doesn't increase infection risk and advocates for genetic testing in children with neutropenia to streamline diagnosis and potentially reduce unnecessary treatments.

Article Abstract

Background: ACKR1/DARC-associated neutropenia (ADAN), resulting from homozygosity for a single nucleotide polymorphism (SNP) in the ACKR1/DARC gene (rs2814778), is a common cause of benign neutropenia that primarily affects individuals of African and Jewish Yemenite descent. We aimed to characterize ADAN in pediatric patients in Israel, given its ethnically diverse population.

Procedure: We assessed children with isolated neutropenia treated during 2018-2023 at one pediatric center, for the ACKR1/DARC polymorphism, using Sanger sequencing or targeted next-generation sequencing.

Results: Of 115 patients evaluated, 49 (42.6%) were diagnosed with ADAN; of these, 29 (59%) had absolute neutrophil counts in the severe range (0-0.5 × 10/L) at diagnosis. The allele distribution revealed 37% of Muslim Arab and 61% of Jewish origin. Yemenite, Ethiopian, Mediterranean, Asian, and European ancestry were included; 59% had a family history of neutropenia. The median age at the first neutropenia detection was 1.2 years; 91.8% were identified during routine blood counts. The median absolute neutrophil count at diagnosis was 0.5 × 10/L (interquartile range: 0.3). An increased susceptibility to infections was not found either before or during the median follow-up period of 2.5 years (interquartile range: 1.54) after the diagnosis of ADAN. In 34 patients (72.3%), neutrophil counts were in the normal range during febrile illnesses.

Conclusions: We identified ADAN in individuals of variable ethnicities, almost half with severe neutropenia. We recommend testing for ADAN in all children with isolated neutropenia without severe infections. Homozygosity for the ACKR1/DARC rs2814778 SNP may obviate the need for further investigation, follow-up, or treatment in specific clinical scenarios.

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Source
http://dx.doi.org/10.1002/pbc.31430DOI Listing

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