Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.L75_P76del2
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NCF1

NM_000265.7:p.L75_P76del2

Associated Papers

[An adolescent male presenting with fever and pulmonary opacities].

Yang YM et al.

Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2026

Prime Editing for p47phox-Deficient Chronic Granulomatous Disease.

Gori JL et al.

The New England Journal of Medicine, 2025

41358590 (PubMed )
Supplement: nejmoa2509807_protocol.pdf

Incidence and Natural History of Very Early-Onset Inflammatory Bowel Disease in Scotland: National and Regional Cohort Studies.

Henderson P et al.

Inflammatory Bowel Diseases, 2025

Osteomyelitis with a Pathologic Fracture, Mortal Liver Abscess, and Cholelithiasis: Distinct Features in two Families with the Same p47-phox Mutation.

Yigit GA et al.

Turkish Archives of Pediatrics, 2025

Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.

Hsu AP et al.

Frontiers in Immunology, 2025

40934010 (PubMed )
Supplement: DataSheet1.pdf

First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.

Bhattarai D et al.

Journal of Clinical Immunology, 2024

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.

Al Kuwaiti AA et al.

Frontiers in Immunology, 2023

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Hebert A et al.

Elife, 2022

Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease.

León-Lara X et al.

Journal of Clinical Immunology, 2021

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Chiu TL et al.

Frontiers in Immunology, 2021

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Blancas-Galicia L et al.

Journal of Clinical Immunology, 2020

Monogenic mimics of Behçet's disease in the young.

Papadopoulou C et al.

Rheumatology (oxford, England), 2019

Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients.

Colin de Verdière S et al.

Journal of Clinical Immunology, 2017

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."