科斯特曼综合征或婴儿遗传性粒细胞缺乏症，第二部分：了解严重先天性中性粒细胞减少症的潜在遗传缺陷。

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

作者信息

Carlsson Göran, Melin Malin, Dahl Niklas, Ramme Kim Göransdotter, Nordenskjöld Magnus, Palmblad Jan, Henter Jan-Inge, Fadeel Bengt

机构信息

Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Stockholm, Sweden.

出版信息

Acta Paediatr. 2007 Jun;96(6):813-9. doi: 10.1111/j.1651-2227.2007.00274.x.

DOI:10.1111/j.1651-2227.2007.00274.x

PMID:17537008

Abstract

UNLABELLED

Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term 'infantile genetic agranulocytosis' for this condition, which is now known as Kostmann syndrome. Recent studies have revealed mutations in ELA-2, encoding the neutrophil granule protease, neutrophil elastase, in autosomal dominant neutropenia, and mutations in HAX-1, encoding an anti-apoptotic protein, in autosomal recessive neutropenia.

CONCLUSION

Future studies should aim to clarify the mechanisms underlying the evolution of secondary malignancies in these patients.

摘要

未标注

人类先天性中性粒细胞减少症于50年前由瑞典儿科医生罗尔夫·科斯曼首次报道。他将这种病症命名为“婴儿遗传性粒细胞缺乏症”，如今被称为科斯曼综合征。最近的研究发现，常染色体显性中性粒细胞减少症中，编码中性粒细胞颗粒蛋白酶（中性粒细胞弹性蛋白酶）的ELA-2发生了突变；常染色体隐性中性粒细胞减少症中，编码一种抗凋亡蛋白的HAX-1发生了突变。