Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2017.08.017
Abstract: PURPOSE Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome. DESIGN Multicenter, prospective interventional case series. METHODS Baseline data from 50 patients from 25 centers worldwide, and follow-up data for… read more here.
Keywords: blau syndrome; case series; prospective interventional; interventional case ... See more keywords
Anterior Segment-Optical Coherence Tomography Features In Blau Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Photodiagnosis and photodynamic therapy"
DOI: 10.1016/j.pdpdt.2021.102278
Abstract: Blau syndrome (BS) is a rare granulomatous auto-inflammatory disease, characterized by the classic clinical triad of joints, skin and ocular involvements. Ocular manifestation usually consists in a bilateral insidious chronic anterior uveitis with a potential… read more here.
Keywords: optical coherence; blau syndrome; segment; anterior segment ... See more keywords
First report of liver transplantation in Blau syndrome: The challenges faced in this rare granulomatous liver disease.
Sign Up to like & getrecommendations! Published in 2021 at "Transplant immunology"
DOI: 10.1016/j.trim.2021.101378
Abstract: Blau syndrome is a rare autoinflammatory granulomatous disease caused by mutations in the NOD2 gene, classically presenting in childhood. Hepatic manifestations are recognized including cholestasis and granulomatous liver disease. We describe a novel NOD2 gene… read more here.
Keywords: blau syndrome; disease; liver; liver transplantation ... See more keywords
Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of rheumatic diseases"
DOI: 10.1111/1756-185x.14716
Abstract: Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established.… read more here.
Keywords: case report; year old; case; blau syndrome ... See more keywords
AB0996 FAMILY CASE OF BLAU SYNDROME IN 3 CHILDREN, INITIALLY DIAGNOSED AS JUVENILE IDIOPATHIC ARTHRITIS
Sign Up to like & getrecommendations! Published in 2020 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2020-eular.6239
Abstract: Juvenile Idiopathic Arthritis (JIA) is heterogeneous group of diseases which may include genetically determined conditions. Extremely rare monogenic hereditary autoinflammatory disease, such as Blau syndrome (BS) is usually difficult to recognize and JIA is initially… read more here.
Keywords: case; arthritis; blau syndrome; disease ... See more keywords
Common condition with uncommon cause: fungal folliculitis in immunosuppressed patient with Blau syndrome
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-243565
Abstract: We present a case of a patient with a history of Blau syndrome, who presented with acute onset of widespread florid painful folliculitis rash, which was resistant to the treatment with multiple courses of antibiotics… read more here.
Keywords: condition uncommon; blau syndrome; common condition; folliculitis ... See more keywords
Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.895765
Abstract: Blau syndrome is a systemic autoinflammatory granulomatous disease caused by mutations in the nucleotide-binding oligomerization domain 2 (NOD2) gene. NOD2 is an intracellular pathogen recognition receptor. Upon binding to muramyl dipeptide (MDP), NOD2 activates the… read more here.
Keywords: systemic autoinflammatory; clinical manifestations; blau syndrome; therapy ... See more keywords
Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.932919
Abstract: Objectives Blau syndrome (BS) is a rare autoinflammatory disease characterized by arthritis, dermatitis, and granulomatous uveitis in early childhood. The study presents the clinical experience of patients with BS at a tertiary care centre in… read more here.
Keywords: centre chandigarh; north india; tertiary care; chandigarh north ... See more keywords
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.988862
Abstract: 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… read more here.
Keywords: cross regulation; nod2 mutations; nod2; cross ... See more keywords