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

共 50 条

[1] Genetic susceptibility to severe asthma with fungal sensitization
Overton, N. L.
Simpson, A.
Bowyer, P.
Denning, D. W.
INTERNATIONAL JOURNAL OF IMMUNOGENETICS, 2017, 44 (03) : 93 - 106
[2] CHIT1 genetic defects in the Portuguese population
Duarte, Ana Joana
Ribeiro, Diogo
Amaral, Olga
BLOOD CELLS MOLECULES AND DISEASES, 2013, 50 (01) : 50 - 52
[3] Inhibition of Macrophage-Specific CHIT1 as an Approach to Treat Airway Remodeling in Severe Asthma
Sklepkiewicz, Piotr
Dymek, Barbara
Mlacki, Michal
Zagozdzon, Agnieszka
Salamon, Magdalena
Siwinska, Anna Maria
Mazurkiewicz, Marcin Piotr
Costa, Natalia de Souza Xavier
Mazur, Marzena
Mauad, Thais
Golebiowski, Adam
Dzwonek, Karolina
Golab, Jakub
Zaslona, Zbigniew
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (05)
[4] Genetic Variation in a Common Biomarker Encoded By CHIT1
Duarte, Ana
Ribeiro, Diogo
Amaral, Olga
MOLECULAR GENETICS AND METABOLISM, 2012, 105 (02) : S27 - S27
[5] Severe Asthma with Fungal Sensitization
Agarwal, Ritesh
CURRENT ALLERGY AND ASTHMA REPORTS, 2011, 11 (05) : 403 - 413
[6] Severe Asthma with Fungal Sensitization
Ritesh Agarwal
Current Allergy and Asthma Reports, 2011, 11 : 403 - 413
[7] Characteristics of severe asthma with fungal sensitization
Masaki, Katsunori
Fukunaga, Koichi
Matsusaka, Masako
Kabata, Hiroki
Tanosaki, Takae
Mochimaru, Takao
Kamatani, Takashi
Ohtsuka, Kengo
Baba, Rie
Ueda, Soichiro
Suzuki, Yusuke
Sakamaki, Fumio
Oyamada, Yoshitaka
Inoue, Takashi
Oguma, Tsuyoshi
Sayama, Koichi
Koh, Hidefumi
Nakamura, Morio
Umeda, Akira
Kamei, Katsuhiko
Izuhara, Kenji
Asano, Koichiro
Betsuyaku, Tomoko
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2017, 119 (03) : 253 - 257
[8] Fungal sensitization in patients with moderate and severe asthma
Amaral Junior, Jose Alvaro
de Araujo Mendes, Andre Luiz
Pereira Ferreira, Denicy Alves
da Silva Ramos Costa, Maria do Rosario
EUROPEAN RESPIRATORY JOURNAL, 2014, 44
[9] Initiation and Pathogenesis of Severe Asthma with Fungal Sensitization
Tiwary, Meenakshi
Samarasinghe, Amali E.
CELLS, 2021, 10 (04)
[10] Characteristics Of Moderate To Severe Asthma With Fungal Sensitization
Masaki, K.
Fukunaga, K.
Matsusaka, M.
Kabata, H.
Tanosaki, T.
Mochimaru, T.
Kamatani, T.
Ohtsuka, K.
Baba, R.
Ueda, S.
Suzuki, Y.
Sakamaki, F.
Oyamada, Y.
Inoue, T.
Oguma, T.
Sayama, K.
Koh, H.
Nakamura, M.
Umeda, A.
Kamei, K.
Asano, K.
Betsuyaku, T.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2017, 195

← 1 2 3 4 5 →