Associated Papers
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1
Palmitoylation restricts SQSTM1/p62-mediated autophagic degradation of NOD2 to modulate inflammation.
Zhou L et al.
Cell Death and Differentiation, 2022
Ocular Features in Chinese Patients with Blau Syndrome.
Wu S et al.
Ocular Immunology and Inflammation, 2020
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
Caso F et al.
Rmd Open, 2015
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Parkhouse R et al.
Febs Letters, 2014
Blau syndrome, clinical and genetic aspects.
Sfriso P et al.
Autoimmunity Reviews, 2012
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.
Milman N et al.
Scandinavian Journal of Rheumatology, 0
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