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Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease.

作者信息

Chester Jennifer G, Estrella Alani M, Kuhns Douglas B, Garcia Christine K, Fuleihan Ramsay L

机构信息

Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY, USA.

Department of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

出版信息

J Clin Immunol. 2024 Aug 15;44(8):177. doi: 10.1007/s10875-024-01782-x.

DOI:10.1007/s10875-024-01782-x
PMID:39143252
Abstract
摘要

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本文引用的文献

1
Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation.早发型肉芽肿性结肠炎伴 NCF4 基因突变经造血干细胞移植治疗缓解。
J Pediatr. 2019 Jul;210:220-225. doi: 10.1016/j.jpeds.2019.03.042. Epub 2019 Apr 23.
2
Inherited p40phox deficiency differs from classic chronic granulomatous disease.遗传性 p40phox 缺陷不同于经典的慢性肉芽肿病。
J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.
3
Residual NADPH oxidase and survival in chronic granulomatous disease.
慢性肉芽肿病中残余烟酰胺腺嘌呤二核苷酸磷酸氧化酶与生存。
N Engl J Med. 2010 Dec 30;363(27):2600-10. doi: 10.1056/NEJMoa1007097.
4
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.一种慢性肉芽肿病的新遗传亚组，其p40吞噬细胞氧化酶存在常染色体隐性突变，且中性粒细胞烟酰胺腺嘌呤二核苷酸磷酸氧化酶活性有选择性缺陷。
Blood. 2009 Oct 8;114(15):3309-15. doi: 10.1182/blood-2009-07-231498. Epub 2009 Aug 19.