Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.I248insFs
Back to variants list

CYBB

NM_000397.4:p.I248insFs

Associated Papers

Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.

Oiuna L et al.

Cytometry. Part B, Clinical Cytometry, 2026

X-linked chronic granulomatous disease combined with disseminated nontuberculous mycobacteria and fungal infections: Diagnosis and treatment analysis.

Huang W et al.

Medicine, 2025

Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.

Chen H et al.

Frontiers in Cellular and Infection Microbiology, 2025

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

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

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Quinn J et al.

Immunologic Research, 2020

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

Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.

Squire JD et al.

Frontiers in Immunology, 2020

Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Wang S et al.

Journal of Clinical Immunology, 2019

A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).

Zhou Q et al.

Journal of Clinical Immunology, 2018

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.

Angelino G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017

Diverse stimuli engage different neutrophil extracellular trap pathways.

Kenny EF et al.

Elife, 2017

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

Ko SH et al.

Immunological Investigations, 2014

Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

Hill HR et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."