Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Lital YeshareemJoanne YacobovichAsaf LebelSharon Noy-LotanOrly DganyTanya KrasnovGalit Berger PintoNino OniashviliJacques MardoukhBella BieloraiRuth LaorNoa Mandel-ShorerAyelet Ben BarakCarina LevinMahdi AslehHagit MiskinShoshana Revel-VilkDror LevinMarganit BenishTsila ZukermanOfir WolachIdit PazgalDafna Brik SimonOded GiladAsaf David YanirTracie Alison GoldbergShai IzraeliHannah TamaryOrna Steinberg-ShemerPublished in: European journal of haematology (2024)
The genetic spectrum of congenital neutropenias in Israel is characterized by a high prevalence of G6PC3 variants and an absence of HAX1 mutations. Similar to other registries, for 26% of the patients, a molecular diagnosis was not achieved. However, myeloid transformation was common in this group, emphasizing the need for close follow-up.