Novel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia.

Kassondra M Little, Joanna L Conant, Katherine A Devitt, Juli-Anne Gardner
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Abstract

Objectives: Congenital neutropenia, defined by absolute neutrophil count (ANC) 2.5x109/L in infants, includes a variety of genotypic alterations that manifest with chronic immunodeficiency and, as a result, presents in infancy with recurrent infections. The gene that encodes neutrophil elastase, ELANE, has pathological variants yielding two distinct phenotypes: severe congenital neutropenia (SCN) and cyclic neutropenia (CyN). While SCN exhibits persistent pathologic ANC values, CyN exhibits pathologic ANC values in a patterned fashion which can recur in 21-day intervals. Here, we describe a patient with a novel heterozygous ELANE deletion (c.224+(4_19)del16) presenting with clinical features consistent with CyN and a response to first-line therapy of granulocyte colony- stimulating factor.

新的ELANE突变与循环中性粒细胞减少症的临床表现相关。
目的:先天性中性粒细胞减少症,定义为婴儿绝对中性粒细胞计数(ANC) 2.5 × 109/L,包括各种基因型改变,表现为慢性免疫缺陷,结果在婴儿中表现为复发性感染。编码中性粒细胞弹性酶的基因ELANE具有病理变异,产生两种不同的表型:严重先天性中性粒细胞减少症(SCN)和循环中性粒细胞减少症(CyN)。SCN表现出持续的病理ANC值,而CyN表现出有规律的病理ANC值,每隔21天复发一次。在这里,我们描述了一位患有新型杂合ELANE缺失(c.224+(4_19)del16)的患者,其临床特征与CyN一致,并对粒细胞集落刺激因子的一线治疗有反应。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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