Original Article

Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia


  • Neslihan Edeer Karaca
  • Güzide Aksu
  • Nesrin Gülez
  • Elif Azarsız
  • Kaan Kavaklı
  • Christoph Klein
  • Necil Kütükçüler

Received Date: 08.10.2015 Accepted Date: 30.11.2015 J Pediatr Res 2016;3(1):7-12


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.


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.


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.

Keywords: Neutropenia, HAX1, ELANE, hypergammaglobulinemia

Full Text (Turkish)