Associated Papers
[An adolescent male presenting with fever and pulmonary opacities].
Yang YM et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2026
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
da Rosa LM et al.
The Journal of Gene Medicine, 2026
Prime Editing for p47phox-Deficient Chronic Granulomatous Disease.
Gori JL et al.
The New England Journal of Medicine, 2025
Incidence and Natural History of Very Early-Onset Inflammatory Bowel Disease in Scotland: National and Regional Cohort Studies.
Henderson P et al.
Inflammatory Bowel Diseases, 2025
Osteomyelitis with a Pathologic Fracture, Mortal Liver Abscess, and Cholelithiasis: Distinct Features in two Families with the Same p47-phox Mutation.
Yigit GA et al.
Turkish Archives of Pediatrics, 2025
Chronic granulomatous disease: A single-center experience in Central Anatolia.
Gul Y et al.
Pediatrics and Neonatology, 2025
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.
Hsu AP et al.
Frontiers in Immunology, 2025
An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections.
Kaygusuz Y et al.
Infectious Diseases & Clinical Microbiology, 2024
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.
Wolach B et al.
Blood, 2024
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.
Bhattarai D et al.
Journal of Clinical Immunology, 2024
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report.
Khanmohammadi S et al.
Journal of Clinical Immunology, 2024
Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.
Abd Elaziz D et al.
Journal of Clinical Immunology, 2023
Adult case of chronic granulomatous disease mimicking granulomatosis with polyangiitis.
Zengin Acemoğlu ŞŞ et al.
International Journal of Rheumatic Diseases, 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
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
Chronic Granulomatous Disease: a Comprehensive Review.
Yu HH et al.
Clinical Reviews in Allergy & Immunology, 2021
Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease.
León-Lara X et al.
Journal of Clinical Immunology, 2021
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.
Akar HT et al.
Journal of Clinical Immunology, 2021
"Clinical Aspects of Chronic Granulomatous Disease in Upper Egypt".
El-Mokhtar MA et al.
Immunological Investigations, 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
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Ripen AM et al.
Frontiers in Immunology, 2021
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K 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
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
NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease.
Sacco KA et al.
Journal of Clinical Immunology, 2020
Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D et al.
International Archives of Allergy and Immunology, 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
Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.
Klatt D et al.
Stem Cell Reports, 2019
Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease.
Smirnov VM et al.
Ophthalmic Genetics, 2019
Monogenic mimics of Behçet's disease in the young.
Papadopoulou C et al.
Rheumatology (oxford, England), 2019
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S et al.
Scandinavian Journal of Immunology, 2019
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Gao LW et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Grabowski P et al.
Molecular & Cellular Proteomics : Mcp, 2019
NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.
Kuhns DB et al.
Blood Advances, 2019
An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection.
Mortaz E et al.
Bmc Infectious Diseases, 2018
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
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
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
Wolach B et al.
Journal of Clinical Immunology, 2018
Preliminary study on chronic granulomatous disease in Sri Lanka.
Fernando SJA et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
El Hawary RE et al.
Molecular Diagnosis & Therapy, 2017
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients.
Colin de Verdière S et al.
Journal of Clinical Immunology, 2017