Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.A124V
Back to variants list

CYBA

NM_000101.4:p.A124V

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.

Kawai C et al.

Microbiology and Immunology, 2023

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

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

Bacillus Calmette-Guérin (BCG) Infections at High Frequency in Both AR-CGD and X-CGD Patients Following BCG Vaccination.

Ishikawa T et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 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

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

Kulkarni M et al.

Journal of Clinical Immunology, 2018

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Badalzadeh M et al.

International Journal of Immunogenetics, 2017

Diverse stimuli engage different neutrophil extracellular trap pathways.

Kenny EF et al.

Elife, 2017

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease.

Jakobsen MA et al.

Scandinavian Journal of Immunology, 2012

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran.

Mortaz E et al.

International Archives of Allergy and Immunology, 0

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."