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Editorial: Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases.
Front Immunol
November 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
Clinical phenotype, genotypes, and treatment observations in Yao syndrome: a retrospective case series.
Front Immunol
October 2024
Division of Rheumatology, Mayo Clinic, Rochester, MN, United States.
Objective: The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations.
Methods: A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, genotypes, and therapeutic trials and responses.
Results: Twenty-two patients diagnosed with YAOS were included.
Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.
Front Immunol
October 2024
Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.
Article Synopsis
- Yao syndrome (YAOS) is an autoinflammatory disease linked to specific genetic variants, with this study analyzing a large group of adult patients diagnosed with related conditions.
- Out of 194 patients studied, 152 were diagnosed with YAOS, while the remainder had mixed autoinflammatory diseases, often showing multiple genetic variants.
- The findings highlight the diverse presentations of YAOS and aim to increase awareness and understanding of this often underrecognized disease among healthcare professionals.
Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.
Front Immunol
September 2024
Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Article Synopsis
- Yao syndrome (YAOS) is a systemic autoinflammatory disease with limited clinical reports in China; this study presents the largest cohort of Chinese YAOS patients to enhance knowledge about its characteristics and treatment.
- The research involved 15 adult patients diagnosed with YAOS, utilizing whole-exome sequencing to analyze clinical features, genetic variations, and treatment outcomes, comparing them with a Caucasian cohort.
- Findings revealed a mean disease onset age of 35 years, common symptoms like recurrent fever and gastrointestinal issues, and a high response rate to treatments such as glucocorticoids and TNF inhibitors, with notable differences in symptoms and demographic features compared to Caucasians.
Yao Syndrome: An Overview of Genotypic Associations, Clinical Manifestations, Diagnosis, and Treatment.
Int Arch Allergy Immunol
September 2024
Department of Internal Medicine, Mather Hospital Northwell Health, Port Jefferson, New York, New York, USA.
Background: Yao syndrome (YAOS) is a rare systemic autoinflammatory disorder (AID) of the innate immune system. It was recently categorized as genetically transitional disease (GTD) and is associated with NOD2 variants located at multiple NOD2 gene loci. Unlike most other periodic fever syndromes, the estimated disease prevalence is 1-10/100,000 with a predominance for females and white adult population.
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