Associated Papers
Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.
Wolff JH et al.
Nature Communications, 2025
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.
Miguel Berenguel L et al.
Frontiers in Immunology, 2024
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
Spectrum of Inborn errors of immunity in a cohort of 90 patients presenting with complications to BCG vaccination in India.
Yadav RM et al.
Scandinavian Journal of Immunology, 2021
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.
Rawat A et al.
Frontiers in Immunology, 2021
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG et al.
Frontiers in 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
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
Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.
Chiriaco M et al.
Clinical Immunology (orlando, Fla.), 2018
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
Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis.
Kawai T et al.
Journal of Clinical Immunology, 2015
Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.
Cotugno N et al.
The Journal of Allergy and Clinical Immunology, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease.
Gutierrez MJ et al.
Case Reports in Pediatrics, 2012
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 characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.
Di Matteo G et al.
Molecular Immunology, 2009
Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease.
Khaldi H et al.
The European Respiratory Journal, 2009
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
Kannengiesser C et al.
Human Mutation, 2008
[Serratia osteomyelitis and chronic granulomatous disease].
Campos M et al.
Acta Medica Portuguesa, 0