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
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
da Rosa LM et al.
The Journal of Gene Medicine, 2026
Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.
Kang Z et al.
Immunologic Research, 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
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.
Monjarret B et al.
The Journal of Allergy and Clinical Immunology, 2023
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
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical 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: Symptomatic Chronic Granulomatous Disease in the Newborn.
Miladinovic M et al.
Frontiers in Immunology, 2021
Pneumocystis jirovecii pneumonia in a X-linked chronic granulomatous disease female carrier.
Kalotychou V et al.
Idcases, 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
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
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.
Teimourian S et al.
Journal of Pediatric Hematology/oncology, 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
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
Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease.
Labrosse R et al.
Frontiers in Immunology, 2017
Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.
Brault J et al.
Bioresearch Open Access, 2014
Chronic granulomatous disease presenting with salmonella brain abscesses.
Finocchi A et al.
The Pediatric Infectious Disease Journal, 2014
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.
Ko SH et al.
Immunological Investigations, 2014
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C et al.
Journal of Clinical Immunology, 2012
Residual NADPH oxidase and survival in chronic granulomatous disease.
Kuhns DB et al.
The New England Journal of Medicine, 2010
Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing.
Goussetis E et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 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
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
Kannengiesser C et al.
Human Mutation, 2008
Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing.
Pangalos CG et al.
Fetal Diagnosis and Therapy, 2008
Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.
Stasia MJ et al.
Human Genetics, 2005
The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease.
Agudelo-Flórez P et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.
Patiño PJ et al.
Human Mutation, 1999
A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
Kuribayashi F et al.
Human Genetics, 1996