Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia
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Original Article
P: 7-12
March 2016

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

J Pediatr Res 2016;3(1):7-12
1. Ege Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, İzmir, Türkiye
2. Research Center for Molecular Medicine of The Austrian Academy of Sciences (cemm), Viyana Tıp Fakültesi, Viyana, Avusturya
No information available.
No information available
Received Date: 08.10.2015
Accepted Date: 30.11.2015
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ABSTRACT

Aim:

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.