Föreläsningar och seminarier Pediatric Oncology seminar
Speaker: Jan Palmblad, professor em. (MD/PhD) / Dept. of Medicine, KI
Title: Ethnic neutropenia - disease, disorder or a variant with consequences for many medical specialities
Summary: Ethnic neutropenia (ENP; OMIM 611862), caused by a gene variation in the DARC/ACKR1 gene (rs2814778), is common in persons with roots in Africa and Middle East. In a cohort of 66 genetically confirmed ENP subjects, we show that absolute neutrophil counts (ANCs) may be lower than previously recognized, being similar to ANCs in severe chronic NP (SCNP). ANCs often normalized during inflammation. These ENP subjects showed no cases of myelodysplastic syndromes (MDS. Unexpectedly, 22% presented with autoantibodies to neutrophils. Compared to healthy donors, ENP subjects demonstrated significantly lower hCAP-18/pro-LL-37 plasma levels (possibly indicating mildly reduced neutropoiesis). Collectively, deeper neutropenia in ENP may complicate differential diagnoses as to other SCNPs, and (auto)immune/inflammatory reactions may be a cause or a consequence of this hereditary neutropenia.