Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
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
Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.
Chen H et al.
Frontiers in Cellular and Infection Microbiology, 2025
Hematopoietic stem cell transplantation for CYBB heterozygous mutation resulting in very early onset inflammatory bowel disease in children: a case report.
Li Z et al.
Bmc Pediatrics, 2023
A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.
Ollech A et al.
Frontiers in Pediatrics, 2023
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 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, 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
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
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
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
Wu J et al.
Journal of Immunology Research, 2017
Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.
Sheikhbahaei S et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.
Abraham RS
Clinical and Molecular Allergy : Cma, 2011
Residual NADPH oxidase and survival in chronic granulomatous disease.
Kuhns DB et al.
The New England Journal of Medicine, 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
Severe X-linked chronic granulomatous disease in two unrelated females.
Chollet-Martin S et al.
European Journal of Pediatrics, 2007
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
Gérard B et al.
Human Mutation, 2001