Karaca, Neslihan EdeerAksu, GuzideGulez, NesrinAzarsiz, ElifKavakli, KaanKlein, ChristophKutukculer, Necil2019-10-272019-10-2720162147-94452147-9445https://doi.org/10.4274/jpr.19480https://hdl.handle.net/11454/53049Aim: Severe congenital neutropenia is a rare immunodeficiency disease characterized by lack of mature neutrophils. We evaluated the association between the molecular, clinical and laboratory findings together with genotype-phenotype relationship in 10 patients with neutropenia. Materials and Methods: The clinical and laboratory findings of ten patients with severe congenital neutropenia were obtained and the diagnosis was confirmed by mutation analysis. Results: The mutation analysis by DNA sequencing revealed HAX-1 mutation in 3 patients from the same family and ELANE/ELA-2 mutation in 1 patient. We compared the patients who had normalization in neutrophil counts and clinical findings spontaneously by age with the patients with HAX1 and ELANE/ELA2 defects and observed that patients with known genetic defects had higher monocyte and immunoglobulin levels on admission. Conclusion: The risk of persistence of neutropenia and the chance to reach a genetic diagnosis is higher in neutropenic patients who have accompanying eosinophilia, monocytosis and hypergammaglobulinemia at the time of initial investigation.tr10.4274/jpr.19480info:eu-repo/semantics/openAccessNeutropeniaHAX1ELANEhypergammaglobulinemiaArticle31712WOS:000406926000003N/A