Selçuk, Bilge Özsait İstanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Özbek, Uğur İstanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey

Konjenital Notropeni ve Genetlk Etyolojlsl

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Congenital neutropenia is a genetic disease that manifests in the first weeks of life. This disorder is a rare severe immune deficiency condition developed due to decreased production of neutrophils in bone marrow or reduced peripheral release of neutrophils ( 0,5xl09/l). However, congenital neutropenia is a common definition that comprises a heterogeneous group of diseases. In this group, some of the disorders manifest only hematological symptoms whereas in some other disorders accompanying extra-hematopoietic symptoms were observed that show variations depending on the genetic etiology. Briefly, these conditions are classified into two groups namely, permanent (severe congenital neutropenia) and cyclic neutropenia. Congenital neutropenia is inherited differently within the famUy, depending on the responsible gene such as autosomal dominant, autosomal recessive or X-related. Moreover, it can also arise from spontaneous mutations. In the scope of this review, congenital neutropenia diseases caused by ELANE, HAX1, WAS, G6PC3, GFI1, JAGN1 and CSF3R gene mutations will be described in detail.

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Congenital Neutropenia , Genetic Heterogeneity , ELANE , HAX1 , WAS , G6PC3 , GFI1 , JAGN1 , CSF3R

Deneysel Tıp Araştırma Enstitüsü Dergisidir

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