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2021 14
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Management of Blau syndrome: review and proposal of a treatment algorithm.
Lassoued Ferjani H, Kharrat L, Ben Nessib D, Kaffel D, Maatallah K, Hamdi W. Lassoued Ferjani H, et al. Eur J Pediatr. 2024 Jan;183(1):1-7. doi: 10.1007/s00431-023-05204-9. Epub 2023 Sep 22. Eur J Pediatr. 2024. PMID: 37735224 Review.
Blau syndrome is a rare genetic granulomatosis affecting children. It could be responsible for vision-threatening complications and articular deformation. ...This work aimed to provide an updated overview of the different therapeutic options for Blau syndr …
Blau syndrome is a rare genetic granulomatosis affecting children. It could be responsible for vision-threatening complication …
Progress in the genetics of uveitis.
Huang XF, Brown MA. Huang XF, et al. Genes Immun. 2022 Apr;23(2):57-65. doi: 10.1038/s41435-022-00168-6. Epub 2022 Apr 4. Genes Immun. 2022. PMID: 35379982 Free PMC article. Review.
In addition, a few monogenic autoinflammatory disorders can also cause uveitis, such as Blau Syndrome and haploinsufficiency of A20 (HA20). Although the exact pathogenesis of non-infectious uveitis is still unclear, it is well-recognised that it involves both geneti …
In addition, a few monogenic autoinflammatory disorders can also cause uveitis, such as Blau Syndrome and haploinsufficiency o …
Sarcoid Uveitis in Children.
Smith JR, Mochizuki M. Smith JR, et al. Ocul Immunol Inflamm. 2023 Dec;31(10):1965-1970. doi: 10.1080/09273948.2023.2282609. Epub 2023 Dec 14. Ocul Immunol Inflamm. 2023. PMID: 37983819 Free article. Review.
"Early-onset sarcoidosis", beginning at age 5 years or less, is an autosomal dominant genetic disease, caused by a mutation in the NOD2 gene. It is also known as sporadic Blau syndrome or Jabs syndrome. "Adult-type sarcoidosis", usually beginning between the ages of …
"Early-onset sarcoidosis", beginning at age 5 years or less, is an autosomal dominant genetic disease, caused by a mutation in the NOD2 gene …
Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.
Zhong Z, Ding J, Su G, Liao W, Gao Y, Zhu Y, Deng Y, Li F, Du L, Gao Y, Yang P. Zhong Z, et al. Ophthalmology. 2022 Jul;129(7):821-828. doi: 10.1016/j.ophtha.2022.03.014. Epub 2022 Mar 18. Ophthalmology. 2022. PMID: 35314268
RESULTS: Eight NOD2 gain-of-function mutations, p.R334W, p.R334Q, p.E383K, p.G481D, p.W490S, p.M513T, p.R587C, and p.N670K, were classified as pathogenic, and 66 patients (1.7%) with uveitis were diagnosed with Blau syndrome due to these mutations. Of 66 with Bla …
RESULTS: Eight NOD2 gain-of-function mutations, p.R334W, p.R334Q, p.E383K, p.G481D, p.W490S, p.M513T, p.R587C, and p.N670K, were classified …
Blau syndrome: An under-reported condition in India?
Agarwal A, Karande S. Agarwal A, et al. J Postgrad Med. 2022 Apr-Jun;68(2):63-67. doi: 10.4103/jpgm.jpgm_1016_21. J Postgrad Med. 2022. PMID: 35295039 Free PMC article. No abstract available.
Vasculitis in autoinflammatory diseases.
Bohbot E, Ben-Chetrit E. Bohbot E, et al. Curr Opin Rheumatol. 2026 Jan 1;38(1):12-19. doi: 10.1097/BOR.0000000000001120. Epub 2025 Aug 22. Curr Opin Rheumatol. 2026. PMID: 40855977 Review.
RECENT FINDINGS: While the connection between innate immune dysregulation and systemic inflammation is well established in AIDs, the occurrence of vasculitis in these disorders remains underrecognized and often misclassified.We discuss vasculitic manifestations in a wide range of …
RECENT FINDINGS: While the connection between innate immune dysregulation and systemic inflammation is well established in AIDs, the occurre …
Blau Syndrome (Juvenile Systemic Granulomatosis): State-Of-The-Art Review.
Wang OJE, Jacob M, Crawford RI, Lam JM. Wang OJE, et al. Pediatr Dermatol. 2025 Jul-Aug;42(4):728-734. doi: 10.1111/pde.16001. Epub 2025 Jun 2. Pediatr Dermatol. 2025. PMID: 40456554 Free PMC article. Review.
Blau syndrome (BlauS) is a rare pediatric autoinflammatory disorder due to NOD2 gain-of-function pathogenic variants characterized by a triad of granulomatous dermatitis, arthritis, and uveitis, which can progress to systemic complications if untreated. ...
Blau syndrome (BlauS) is a rare pediatric autoinflammatory disorder due to NOD2 gain-of-function pathogenic variants character …
Treatment of uveitis in Blau syndrome: A systematic review and meta-analysis.
Maccora I, Wouters C, Rosè CD, Maniscalco V, de Masi S, Mastrolia MV, Marrani E, Pagnini I, Simonini G. Maccora I, et al. J Autoimmun. 2025 May;153:103401. doi: 10.1016/j.jaut.2025.103401. Epub 2025 Mar 26. J Autoimmun. 2025. PMID: 40147219
OBJECTIVES: Blau syndrome (BS) is a rare autoinflammatory disease caused by gain of function variants in NOD2. ...
OBJECTIVES: Blau syndrome (BS) is a rare autoinflammatory disease caused by gain of function variants in NOD2. ...
IMMUNE-MEDIATED INTRAOCULAR INFLAMMATION. A REVIEW.
Klímová A, Brichová M, Říhová E, Heissigerová J, Svozílková P. Klímová A, et al. Cesk Slov Oftalmol. 2021 Spring;77(4):163-168. doi: 10.31348/2021/7. Cesk Slov Oftalmol. 2021. PMID: 34507492 Free article. Review. English.
Hereditary periodic fevers represent monogenic autoinflammatory diseases; eye specific is Blau syndrome also named sarcoidosis with early onset. This article reviews the actual knowledge about immune mediated uveitides, their immunological mechanisms and the possibl …
Hereditary periodic fevers represent monogenic autoinflammatory diseases; eye specific is Blau syndrome also named sarcoidosis …
Ocular involvement in monogenic autoinflammatory disease.
Maccora I, Marrani E, Mastrolia MV, Abu-Rumeileh S, Maniscalco V, Fusco E, Barbati F, Pagnini I, Simonini G. Maccora I, et al. Autoimmun Rev. 2021 Nov;20(11):102944. doi: 10.1016/j.autrev.2021.102944. Epub 2021 Sep 9. Autoimmun Rev. 2021. PMID: 34509650

Among AIDs with uveitis, granulomatous inflammation was more common in Blau syndrome (p < 0.00001). CONCLUSION: This systematic literature review characterized the ocular involvement of several AIDs, and the present data may encourage to consider a timely ophthal

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Among AIDs with uveitis, granulomatous inflammation was more common in Blau syndrome (p < 0.00001). CONCLUSION: This system

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61 results