Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem. 2001;276(7):4812–8.
Article CAS PubMed Google Scholar
Hedl M, Li J, Cho JH, Abraham C. Chronic stimulation of Nod2 mediates tolerance to bacterial products. Proc Natl Acad Sci U S A. 2007;104(49):19440–5.
Article CAS PubMed PubMed Central Google Scholar
Lala S, Ogura Y, Osborne C, Hor SY, Bromfield A, Davies S, Ogunbiyi O, Nunez G, Keshav S. Crohn’s disease and the NOD2 gene: a role for Paneth cells. Gastroenterology. 2003;125(1):47–57.
Article CAS PubMed Google Scholar
Yao Q. Nucleotide-binding oligomerization domain containing 2: Structure, function, and diseases. Semin Arthritis Rheum; 2013.
Abraham C, Cho JH. Functional consequences of NOD2 (CARD15) mutations. Inflamm Bowel Dis. 2006;12(7):641–50.
Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O’Morain CA, Gassull M, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to crohn’s disease. Nature. 2001;411(6837):599–603.
Article CAS PubMed Google Scholar
McGovern DP, van Heel DA, Ahmad T, Jewell DP. NOD2 (CARD15), the first susceptibility gene for crohn’s disease. Gut. 2001;49(6):752–4.
Article CAS PubMed PubMed Central Google Scholar
Cho JH. The Nod2 gene in crohn’s disease: implications for future research into the genetics and immunology of crohn’s disease. Inflamm Bowel Dis. 2001;7(3):271–5.
Article CAS PubMed Google Scholar
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29(1):19–20.
Article CAS PubMed Google Scholar
Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, Williams CJ. CARD15 mutations in Familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum. 2002;46(11):3041–5.
Article CAS PubMed Google Scholar
Yao Q, Su LC, Tomecki KJ, Zhou L, Jayakar B, Shen B. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol. 2013;68(4):624–31.
Article CAS PubMed Google Scholar
Wu S, Deng Z, Uddin A, Xin B, Gorevic P, Yao Q. Utilization of the All of Us Research Program in a study of genetics of Yao syndrome. J Allergy Clin Immunol 2025 Nov 7:S0091–6749(25)01118–2 https://doi.org/10.1016/j.jaci.2025.10.028. Online ahead of print.
Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr. 1985;107(5):689–93.
Article CAS PubMed Google Scholar
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005;105(3):1195–7.
Article CAS PubMed Google Scholar
Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, et al. Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation. Ann Rheum Dis. 2020;79(11):1492–9.
Article CAS PubMed Google Scholar
Rose CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R, Espada G, Fernandez-Martin J, Hachulla E, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–16.
Article CAS PubMed Google Scholar
Ikeda K, Kambe N, Takei S, Nakano T, Inoue Y, Tomiita M, Oyake N, Satoh T, Yamatou T, Kubota T, et al. Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. Arthritis Res Ther. 2014;16(2):R89.
Article PubMed PubMed Central Google Scholar
Sarens IL, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Chedeville G, Cimaz R, Dick AD, Espada G, Fernandez-Martin J, et al. Blau Syndrome-Associated uveitis: preliminary results from an international prospective interventional case series. Am J Ophthalmol. 2018;187:158–66.
Matsuda T, Kambe N, Takimoto-Ito R, Ueki Y, Nakamizo S, Saito MK, Takei S, Kanazawa N. Potential benefits of TNF targeting therapy in Blau Syndrome, a NOD2-Associated systemic autoinflammatory granulomatosis. Front Immunol. 2022;13:895765.
Article CAS PubMed PubMed Central Google Scholar
Kitagawa Y, Kawasaki Y, Yamasaki Y, Kambe N, Takei S, Saito MK. Anti-TNF treatment corrects IFN-gamma-dependent Proinflammatory signatures in Blau syndrome patient-derived macrophages. J Allergy Clin Immunol. 2022;149(1):176–e188177.
Article CAS PubMed Google Scholar
Ueki Y, Takimoto-Ito R, Saito MK, Tanizaki H, Kambe N. Tofacitinib, a suppressor of NOD2 expression, is a potential treatment for Blau syndrome. Front Immunol. 2023;14:1211240.
Article CAS PubMed PubMed Central Google Scholar
Zhang S, Cai Z, Mo X, Zeng H. Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients. Pediatr Rheumatol Online J. 2021;19(1):160.
Article PubMed PubMed Central Google Scholar
Yao Q, Shen B. A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. Am J Med. 2017;130(3):365. e313–365 e318.
Nomani H, Wu S, Saif A, Hwang F, Metzger J, Navetta-Modrov B, Gorevic PD, Aksentijevich I, Yao Q. Comprehensive clinical phenotype, genotype and therapy in Yao syndrome. Front Immunol. 2024;15:1458118.
Article CAS PubMed PubMed Central Google Scholar
Williamson KA, Samec MJ, Patel JA, Orandi AB, Wang B, Crowson CS, Loftus EV Jr., Alavi A, Moyer AM, Davis JM. 3rd: clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series. Front Immunol. 2024;15:1304792.
Article CAS PubMed PubMed Central Google Scholar
Davis JM 3rd, McDonald C, Yao Q. Editorial: Basic, clinical, and translational studies of Yao syndrome and other NOD2 related diseases. Front Immunol. 2024;15:1521815.
Article CAS PubMed PubMed Central Google Scholar
Karamanakos A, Vougiouka O, Sapountzi E, Venetsanopoulou AI, Tektonidou MG, Germenis AE, Sfikakis PP, Laskari K. The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review. Front Immunol. 2024;15:1342668.
Article CAS PubMed PubMed Central Google Scholar
Zhang J, Huang X, Shen M. Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients. Front Immunol. 2024;15:1444542.
Article CAS PubMed PubMed Central Google Scholar
Cresoe-Ortiz S, Hall G, Randell RL, Lawrence MG, Patel A, Peroutka C, Yao Q, Mousallem T. Yao syndrome in a child with C2 deficiency. J Allergy Clin Immunol Pract. 2024;12(11):3159–62.
Article CAS PubMed PubMed Central Google Scholar
Yao Q, Schils J. Distal lower extremity swelling as a prominent phenotype of NOD2-associated autoinflammatory disease. Rheumatology (Oxford). 2013;52(11):2095–7.
Comments (0)