Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus
Here, we present a patient with pSLE harboring biallelic variants in <i>NCF4</i>. Our patient represents a unique clinical presentation of severe onset autoimmunity in the setting of a rare inborn error of immunity affecting NADPH oxidase activity. This case underscores the need to consider genetic causes of pSLE in cases of pre-pubertal onset and atypical disease.
Authors
- Eyal Muscal (ORCID: https://orcid.org/0000-0003-1866-6129)
- Iván K. Chinn (ORCID: https://orcid.org/0000-0001-5684-5457)
- Alejandro Nieto-Patlán (ORCID: https://orcid.org/0000-0002-8668-6853)
- Douglas B. Kuhns (ORCID: https://orcid.org/0000-0002-9971-0760)
- Tiphanie P. Vogel (ORCID: https://orcid.org/0000-0002-0857-133X)
- Steven M. Holland (ORCID: https://orcid.org/0000-0003-3207-5464)
- Natalia Dávila
- Bo Yuan (ORCID: https://orcid.org/0000-0001-7278-5116)
- Martha Curry
- Michelle Zelnick
- James R. Lupski
- Yuqing Wang (ORCID: https://orcid.org/0000-0001-9500-5477)
Institutions
- Leidos (United States) (US)
- National Institutes of Health (US)
- Baylor College of Medicine (US)
- Frederick National Laboratory for Cancer Research (US)
- National Institute of Allergy and Infectious Diseases (US)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-08-20
- DOI
- https://doi.org/10.3389/fped.2024.1425874
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jeffrey Modell Foundation
- Texas Children's Hospital
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute