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
收藏
页码：E982 / E985
页数：4
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