CHIT1 Mutations: Genetic Risk Factor for Severe Asthma With Fungal Sensitization?

被引：24

作者：

Vicencio, Alfin G. ^{[1
]}

Chupp, Geoffrey L. ^{[2
]}

Tsirilakis, Kalliope ^{[3
,4
]}

He, Xiaoxuan ^{[2
]}

Kessel, Aaron ^{[3
,4
]}

Nandalike, Kiran ^{[3
]}

Veler, Haviva ^{[3
,4
]}

Kipperman, Stacy ^{[3
,4
]}

Young, Michael C. ^{[5
]}

Goldman, David L. ^{[3
,4
]}

机构：

[1] Cohen Childrens Med Ctr New York, Div Pediat Pulmonol & Cyst Fibrosis, New Hyde Pk, NY 11040 USA

[2] Yale Ctr Asthma & Airways Dis, New Haven, CT USA

[3] Childrens Hosp Montefiore, Dept Pediat, Bronx, NY USA

[4] Albert Einstein Coll Med, Bronx, NY 10467 USA

[5] Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Boston, MA 02115 USA

来源：

PEDIATRICS | 2010年 / 126卷 / 04期

基金：

美国国家卫生研究院;

关键词：

innate immunity; allergy; chitin; CHITOTRIOSIDASE; CHITINASE;

D O I：

10.1542/peds.2010-0321

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Fungi can exacerbate symptoms in patients with asthma. To our knowledge, genetic risk factors for fungal-associated asthma have not been described. We present here the cases of 6 children who carried the diagnosis of severe asthma with fungal sensitization, 3 of whom were treated with and responded clinically to itraconazole therapy. All 6 patients were heterozygous for a 24-base pair duplication in the CHIT1 gene, which has been associated with decreased levels of circulating chitotriosidase and susceptibility to fungal infection. Pediatrics 2010; 126:e982-e985

引用

页码：E982 / E985

页数：4

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