Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Structure of human phagocyte NADPH oxidase in the activated state.
Liu X et al.
Nature, 2024
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.
Tsilifis C et al.
Journal of Clinical Immunology, 2023
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.
Gul I et al.
Italian Journal of Pediatrics, 2023
Structure of the core human NADPH oxidase NOX2.
Noreng S et al.
Nature Communications, 2022
Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.
Sun B et al.
Journal of Clinical Immunology, 2022
Utility of Immunohistochemistry and Immunofluorescence in Determining the Pathogenic Variants of Chronic Granulomatous Disease.
Sekar A et al.
Journal of Clinical 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
Case report: Chronic granulomatous disease presenting with early-onset inflammatory bowel disease and normal oxidative burst testing.
Mondal S et al.
Frontiers in Pediatrics, 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
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
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
A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease.
Zurro NB et al.
Pediatric Blood & Cancer, 2018
Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.
Hauck F et al.
Journal of Crohn's & Colitis, 2016
Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.
Beaumel S et al.
The Biochemical Journal, 2014
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
[Clinical features of chronic granulomatous disease].
Ying WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
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
Genetics and immunopathology of chronic granulomatous disease.
Stasia MJ et al.
Seminars in Immunopathology, 2008
Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.
Kaneda M et al.
Blood, 1999
[Chronic granulomatous disease (CGD)].
Takikawa K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977