Novel hypomorphic CYBB variant causing chronic granulomatous disease with incomplete penetrance

被引：0

作者：

de la Camara, Ricardo Cuesta-Martin ^{[1
,2
,3
]}

Morato, Maria Bravo-Garcia ^{[1
,2
,4
]}

Camara-Hijon, Carmen ^{[1
]}

Magallares, Lorena ^{[5
]}

Martinez-Ojinaga, Eva ^{[5
]}

Gonzalez-Torbay, Andrea ^{[1
]}

Miguel-Berenguel, Laura ^{[1
]}

del Rosal, Teresa ^{[4
,6
]}

Sarria-Oses, Jesus ^{[5
]}

Rodriguez-Pena, Rebeca ^{[1
,2
,4
]}

机构：

[1] Univ Hosp La Paz, Clin Immunol Dept, Paseo Castellana 261, Madrid 28046, Spain

[2] La Paz Inst Hlth Res IdiPAZ, Lymphocyte Pathophysiol Immunodeficiencies Grp, Madrid, Spain

[3] Autonomous Univ Madrid, Med & Surg Dept, Madrid, Spain

[4] Rare Dis Networking Biomed Res Ctr U767, Madrid, Spain

[5] Univ Hosp La Paz, Pediat Gastroenterol & Nutr Serv, Madrid, Spain

[6] Univ Hosp La Paz, Pediat Infect & Trop Dis Dept, Infect Dis Unit, Madrid, Spain

来源：

PEDIATRIC ALLERGY AND IMMUNOLOGY | 2024年 / 35卷 / 10期

关键词：

chronic granulomatous disease; inflammatory bowel diseases; NADPH oxidase; primary immunodeficiency diseases; ulcerative colitis; MUTATIONS; GENETICS;

D O I：

10.1111/pai.14259

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

引用

页数：5

共 12 条

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