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
Unmasking chronic granulomatous disease: A routine diagnostic workup in a Brazilian children's hospital.
Melo KM et al.
Allergologia Et Immunopathologia, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital
Berriozábal-Villarruel X et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
High-fidelity PAMless base editing of hematopoietic stem cells to treat chronic granulomatous disease.
Bzhilyanskaya V et al.
Science Translational Medicine, 2024
Rapid Diagnosis of Hemophagocytic Lymphohistiocytosis Triggered by Disseminated BCG Infection in Infants With Severe Combined Immunodeficiency: Case Report.
Zou TT et al.
Open Forum Infectious Diseases, 2023
Gene Editing in Human Haematopoietic Stem Cells for the Treatment of Primary Immunodeficiencies.
Bahal S et al.
Molecular Diagnosis & Therapy, 2023
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
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
Migliavacca M et al.
Journal of Clinical Immunology, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection.
Lemaigre C et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
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
Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019.
Wu CY et al.
Journal of Clinical Immunology, 2021
Correction of X-CGD patient HSPCs by targeted CYBB cDNA insertion using CRISPR/Cas9 with 53BP1 inhibition for enhanced homology-directed repair.
Sweeney CL et al.
Gene Therapy, 2021
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Mollin M et al.
Clinical and Experimental Immunology, 2021
Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.
Heydari A et al.
Journal of Clinical Laboratory Analysis, 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
Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.
Al-Hammadi S et al.
Frontiers in Pediatrics, 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
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 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
Lentiviral gene therapy for X-linked chronic granulomatous disease.
Kohn DB et al.
Nature Medicine, 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
Advances and highlights in primary immunodeficiencies in 2017.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2018
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 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
X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant.
Boonyawat B et al.
Case Reports in Pediatrics, 2018
Noninfectious Enterocolitis as Initial Presentation of Chronic Granulomatous Disease.
Mohandas S et al.
Clinical Pediatrics, 2017
CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.
De Ravin SS et al.
Science Translational Medicine, 2017
Erratum to: Clinical and Molecular Features of 38 Children with Chronic Granulomatous Disease in Mainland China.
Xu H et al.
Journal of Clinical Immunology, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee WI et al.
Annals of Medicine, 2016
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
Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.
Baba LA et al.
Journal of Clinical Immunology, 2014
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.
Ko SH et al.
Immunological Investigations, 2014
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.
Gill HK et al.
Asian Pacific Journal of Allergy and Immunology, 2013
Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling.
Sun J et al.
Scandinavian Journal of Immunology, 2012
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.
de Oliveira-Junior EB et al.
Scandinavian Journal of Immunology, 2012
Residual NADPH oxidase and survival in chronic granulomatous disease.
Kuhns DB et al.
The New England Journal of Medicine, 2010
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
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
Gérard B et al.
Human Mutation, 2001