Associated Papers
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report.
Wang L et al.
Frontiers in Oncology, 2024
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease.
Zhang L et al.
Journal of Clinical Immunology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational 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
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
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
Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.
El Hawary R et al.
Journal of Clinical Immunology, 2016
Long-term outcome of patients with p22 (phox) -deficient chronic granulomatous disease on Jeju Island, Korea.
Kang HS et al.
Korean Journal of Pediatrics, 2015
Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study.
Ying W et al.
Plos One, 2014
[Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations].
He JX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.
Kim YM et al.
Journal of Korean Medical Science, 2009
Genetics and immunopathology of chronic granulomatous disease.
Stasia MJ et al.
Seminars in Immunopathology, 2008
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F et al.
Human Genetics, 2000
[Prospects for gene therapy for chronic granulomatous disease with gp91-phox deficiency].
Nunoi H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998