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368 results

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Page 1
Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.
Takada S, Saito MK, Kambe N. Takada S, et al. G Ital Dermatol Venereol. 2020 Oct;155(5):537-541. doi: 10.23736/S0392-0488.19.06524-6. Epub 2020 Jul 2. G Ital Dermatol Venereol. 2020. PMID: 32618442 Review.
Blau Syndrome, or early-onset sarcoidosis, is hereditary juvenile-onset systemic granulomatosis. ...Although tumor necrosis factor alpha (TNFalpha) antagonists are effective for controlling some of the symptoms of Blau Syndrome, there is no specific cu …
Blau Syndrome, or early-onset sarcoidosis, is hereditary juvenile-onset systemic granulomatosis. ...Although tumor necrosis fa …
Distinguishing Blau Syndrome from Systemic Sarcoidosis.
Kaufman KP, Becker ML. Kaufman KP, et al. Curr Allergy Asthma Rep. 2021 Feb 9;21(2):10. doi: 10.1007/s11882-021-00991-3. Curr Allergy Asthma Rep. 2021. PMID: 33560445 Free PMC article. Review.
Blau syndrome and Early Onset Sarcoidosis are due to one of numerous possible gain-of-function mutations in NOD2, commonly presenting before age 5 with a triad of skin rash, arthritis, and uveitis. ...This paper reviews the similarities and differences between Bl …
Blau syndrome and Early Onset Sarcoidosis are due to one of numerous possible gain-of-function mutations in NOD2, commonly pre …
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 …
Ocular manifestations of Blau syndrome.
Suresh S, Tsui E. Suresh S, et al. Curr Opin Ophthalmol. 2020 Nov;31(6):532-537. doi: 10.1097/ICU.0000000000000705. Curr Opin Ophthalmol. 2020. PMID: 33009086 Review.
PURPOSE OF REVIEW: This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and reviews recently published literature. RECENT FINDINGS: A large multicenter prospective case series is underway, with 3-year preliminary result …
PURPOSE OF REVIEW: This article summarizes the systemic and ocular manifestations of Blau syndrome, its genetic basis, and rev …
Blau syndrome revisited.
Rose CD, Martin TM, Wouters CH. Rose CD, et al. Curr Opin Rheumatol. 2011 Sep;23(5):411-8. doi: 10.1097/BOR.0b013e328349c430. Curr Opin Rheumatol. 2011. PMID: 21788900 Review.
PURPOSE OF REVIEW: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis. ...A brief review of more recent advances in relevant pathw …
PURPOSE OF REVIEW: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) …
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.
Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Wouters CH, et al. Pediatr Rheumatol Online J. 2014 Aug 6;12:33. doi: 10.1186/1546-0096-12-33. eCollection 2014. Pediatr Rheumatol Online J. 2014. PMID: 25136265 Free PMC article. Review.
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. ...From an ongoing prospective multicenter study, we prov …
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically …
Blau syndrome presenting as lipoma arborescens.
Yin H, Lin W, Zhi L, Yin F, Yang S, Lu L. Yin H, et al. Lancet Rheumatol. 2025 Jan;7(1):e72. doi: 10.1016/S2665-9913(24)00055-9. Epub 2024 Apr 25. Lancet Rheumatol. 2025. PMID: 38679039 No abstract available.
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Mao L, Dhar A, Meng G, Fuss I, Montgomery-Recht K, Yang Z, Xu Q, Kitani A, Strober W. Mao L, et al. Front Immunol. 2022 Sep 15;13:988862. doi: 10.3389/fimmu.2022.988862. eCollection 2022. Front Immunol. 2022. PMID: 36189261 Free PMC article.
The studies described here provide an analysis of the pathogenesis of Blau syndrome and thereby the function of NOD2 as seen through the lens of its dysfunction resulting from Blau-associated NOD2 mutations in its nucleotide-binding domain (NBD). ...Mutations in the …
The studies described here provide an analysis of the pathogenesis of Blau syndrome and thereby the function of NOD2 as seen t …
A Chinese girl of Blau syndrome with renal arteritis and a literature review.
Zeng Q, Liu H, Li G, Li Y, Guan W, Zhang T, Gong Y, Zhang X, Lv Q, Wu B, Xu H, Sun L. Zeng Q, et al. Pediatr Rheumatol Online J. 2023 Mar 13;21(1):23. doi: 10.1186/s12969-023-00804-z. Pediatr Rheumatol Online J. 2023. PMID: 36915122 Free PMC article. Review.
BACKGROUND: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. Vascular involvement is a rare phenotype in Blau syndrome patients. In this study, we aimed to describe a 20-year- old Chinese …
BACKGROUND: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. V …
368 results