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Pediatric Rheumatology

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Open Access 01-12-2021 | Letter to the Editor

Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case report

Authors: George N. Goulielmos, Maria I. Zervou, Elias Eliopoulos

Published in: Pediatric Rheumatology | Issue 1/2021

Excerpt

Dear Editor, …

Schnappauf O, et al. Homozygous variant p.Arg90His in NCF1 is associated with early-onset interferonopathy: A case report. Pediatric Rheumatology. 2021;19:54.CrossRef

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Babior BM, Kipnes RS, Curnutte JT. Biological defense mechanisms. The production by leukocytes of superoxide, a potential bactericidal agent. J Clin Invest. 1973;52(3):741–4.CrossRef

Zhong J, Olsson LM, Urbonaviciute V, Yang M, Bäckdahl L, Holmdahl R. Association of Nox2 subunits genetic variants with autoimmune diseases. Free Radic Biol Med. 2018;125:72–80.CrossRef

Ago T, Kuribayashi F, Hiroaki H, Takeya R, Ito T, Kohda D, et al. Phosphorylation of p47phox directs phox homology domain from SH3 domain toward phosphoinositides, leading to phagocyte NADPH oxidase activation. PNAS. 2003;100:84474–9.CrossRef

Hiroaki H, Ago T, Ito T, Sumimoto H, Kohda D. Solution structure of the PX domain, a target of the SH3 domain. Nat Struct Biol. 2001;8:526–30.CrossRef

Karathanassis D, Stahelin RV, Bravo J, Perisic O, Christine M, Pacold CM, Cho W, Williams RL. Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction EMBO J. 2002;21(19):5057-68. doi: https://doi.org/10.1093/emboj/cdf519.

Ueyama T, Tatsuno T, Kawasaki T, Tsujibe S, Shirai Y, Sumimoto H, Leto TL, Saito N. A regulated adaptor function of p40phox: distinct p67phox membrane targeting by p40phox and by p47phox. Mol Biol Cell. 2007;18(2):441 – 54. doi: https://doi.org/10.1091/mbc.e06-08-0731. Epub 2006 Nov 22. PMID: 17122360.

Schrodinger LLC. The PyMOLFigur1 Molecular Graphics System 2016;Version 2.2.

Title: Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case report
Authors: George N. Goulielmos
Maria I. Zervou
Elias Eliopoulos
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue 1/2021
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/s12969-021-00612-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case report

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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