Associated Papers
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
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
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
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
de Oliveira-Junior EB et al.
Pediatric Blood & Cancer, 2015
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
Heme-ligating histidines in flavocytochrome b(558): identification of specific histidines in gp91(phox).
Biberstine-Kinkade KJ et al.
The Journal of Biological Chemistry, 2001
[Chronic granulomatous disease (CGD)].
Takikawa K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977
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