Kostmann syndrome or infantile genetic agranulocytosis, part one:: Celebrating 50 years of clinical and basic research on severe congenital neutropenia

被引：32

作者：

Carlsson, Goran

Andersson, Mats

Putsep, Katrin

Garwicz, Daniel

Nordenskjold, Magnus

Henter, Jan-Inge

Palmblad, Jan

Fadeel, Bengt ^{[2
]}

机构：

[1] Karolinska Univ Hosp, Dept Women & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

[2] Karolinska Inst, Inst Environm Med, Div Biochem Toxicol, SE-17177 Stockholm, Sweden

[3] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Stockholm, Sweden

[4] Karolinska Univ Hosp, Karolinska Lab, Dept Mol Med & Surg, Div Clin Chem, Stockholm, Sweden

[5] Karolinska Univ Hosp, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden

[6] Karolinska Univ Hosp, Dept Med, Stockholm, Sweden

[7] Karolinska Inst, Inst Environm Med, Div Biochem Toxicol, Stockholm, Sweden

来源：

ACTA PAEDIATRICA | 2006年 / 95卷 / 12期

关键词：

antibacterial peptides; granulocyte colony-stimulating factor; Kostmann syndrome; periodontitis; severe congenital neutropenia;

D O I：

10.1080/08035250601087607

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 demonstrated a lack of antibacterial peptides and severe periodontitis in these patients despite recombinant growth factor treatment. Moreover, an increased degree of apoptosis of myeloid progenitor cells in the bone marrow has been shown.

引用

页码：1526 / 1532

页数：7

共 30 条

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