Associated Papers
Retinal Vasculitis in Familial Blau Syndrome.
Sharma M et al.
Ocular Immunology and Inflammation, 2025
Blau syndrome with persistent fetal vasculature: a case report.
Liu M et al.
Journal of Medical Case Reports, 2023
A Chinese girl of Blau syndrome with renal arteritis and a literature review.
Zeng Q et al.
Pediatric Rheumatology Online Journal, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Córdova-Fletes C et al.
Autoimmunity, 2020
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.
Li C et al.
Science China. Life Sciences, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
[Mutations of NOD2 gene and clinical features in Chinese Blau syndrome patients].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome.
Punzi L et al.
Best Practice & Research. Clinical Rheumatology, 2011
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
Okafuji I et al.
Arthritis and Rheumatism, 2009
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
Kanazawa N et al.
Blood, 2005
Expanding the Cutaneous Presentation of Blau Syndrome, Response to Treatment, and Correlation With Genetics.
Mohandesi NA et al.
Pediatric Dermatology, 0
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