A novel mutation in EROS (CYBC1) causes chronic granulomatous disease

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 255(2023) vom: 01. Okt., Seite 109761
1. Verfasser:	Mortimer, Paige M (VerfasserIn)
Weitere Verfasser:	Nichols, Esme, Thomas, Joe, Shanbhag, Rachna, Singh, Neha, Coomber, Eve L, Malik, Talat H, Pickering, Matthew C, Randzavola, Lyra, Rae, William, Bhattad, Sagar, Thomas, David C
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2023
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Journal Article Research Support, Non-U.S. Gov't CYBC1 Chronic granulomatous disease EROS NADPH Oxidases EC 1.6.3.- Reactive Oxygen Species

Beschreibung
Zusammenfassung:	Copyright © 2023. Published by Elsevier Inc. Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterised by opportunistic infection and sterile granulomatous inflammation. CGD is caused by a failure of reactive oxygen species (ROS) production by the phagocyte NADPH oxidase. Mutations in the genes encoding phagocyte NADPH oxidase subunits cause CGD. We and others have described a novel form of CGD (CGD5) secondary to lack of EROS (CYBC1), a highly selective chaperone for gp91phox. EROS-deficient cells express minimal levels of gp91phox and its binding partner p22phox, but EROS also controls the expression of other proteins such as P2X7. The full nature of CGD5 is currently unknown. We describe a homozygous frameshift mutation in CYBC1 leading to CGD. Individuals who are heterozygous for this mutation are found in South Asian populations (allele frequency = 0.00006545), thus it is not a private mutation. Therefore, it is likely to be the underlying cause of other cases of CGD
Beschreibung:	Date Completed 02.10.2023 Date Revised 02.10.2023 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2023.109761