先天性中性粒细胞减少综合征

Congenital neutropenia syndromes.

作者信息

Boztug Kaan, Welte Karl, Zeidler Cornelia, Klein Christoph

机构信息

Department of Pediatric Hematology/Oncology, Medical School Hannover, Carl-Neuberg-Strasse 1, D-30625 Hannover, Germany.

出版信息

Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007.

DOI:10.1016/j.iac.2008.01.007

PMID:18424332

Abstract

Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. Hereditary conditions associated with low neutrophil counts are persistent and need to be differentiated from neutropenia secondary to autoimmune processes or other pathologic conditions, such as myelodysplasia or leukemia. Clinically, congenital neutropenia is characterized by recurrent bacterial infections. Recently, several novel genetic defects were described in patients with congenital neutropenia, shedding light on the pathophysiology of these rare diseases.

摘要

先天性中性粒细胞减少综合征是一组异质性遗传性疾病。与中性粒细胞计数低相关的遗传性疾病持续存在，需要与继发于自身免疫过程或其他病理状况（如骨髓增生异常或白血病）的中性粒细胞减少症相鉴别。临床上，先天性中性粒细胞减少症的特征是反复发生细菌感染。最近，在先天性中性粒细胞减少症患者中发现了几种新的基因缺陷，为这些罕见疾病的病理生理学提供了线索。