Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

J Clin Immunol. 2021 Jan;41(1):224-226. doi: 10.1007/s10875-020-00877-5. Epub 2020 Oct 1.

Authors

Eveline Y Wu¹, Hye Sun Kuehn², Sergio D Rosenzweig², Ivona Aksentijevich³, Diana B McShane⁴

Affiliations

¹ Department of Pediatrics, Division of Allergy, Immunology, Rheumatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. eywu@email.unc.edu.
² Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.
³ National Human Genome Research Institute, NIH, Bethesda, MD, USA.
⁴ Department of Dermatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Alleles
Biopsy
DNA Mutational Analysis
Female
Genes, X-Linked
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Genotype
Granulomatous Disease, Chronic / diagnosis*
Granulomatous Disease, Chronic / genetics*
Humans
Mutation*
NADPH Oxidase 2 / genetics*
Pedigree
Phenotype*

Substances

CYBB protein, human
NADPH Oxidase 2

Grants and funding

KL2 TR002490/TR/NCATS NIH HHS/United States