Comprehensive clinical phenotype, genotype and therapy in Yao syndrome
This largest cohort has provided comprehensive clinical and genotyping data in YAOS. Variants in the <i>NOD2</i> gene can give rise to a spectrum from inflammatory bowel disease to autoinflammatory disease.This report further raises awareness of the underdiagnosed disease in the medical community.
Authors
- Brianne Navetta‐Modrov
- Peter D. Gorevic
- Ivona Aksentijevich (ORCID: https://orcid.org/0000-0002-6564-7214)
- Qingping Yao (ORCID: https://orcid.org/0000-0002-6539-5803)
- Song Wu (ORCID: https://orcid.org/0000-0003-3504-1630)
- Hafsa Nomani
- Frank Hwang
- Ashmia Saif
- Jane Metzger
Institutions
- National Institutes of Health (US)
- Stony Brook School (US)
- National Human Genome Research Institute (US)
- Stony Brook University (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2024-09-20
- DOI
- https://doi.org/10.3389/fimmu.2024.1458118
- Citations
- 8
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.87
Funders
- Stony Brook University