Associated Papers
Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.
Kawai C et al.
Microbiology and Immunology, 2023
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG et al.
Nature Communications, 2020
Colitis susceptibility in mice with reactive oxygen species deficiency is mediated by mucus barrier and immune defense defects.
Aviello G et al.
Mucosal Immunology, 2019
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P et al.
Frontiers in Immunology, 2018
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
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
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