scholarly journals Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations

2007 ◽  
Vol 30 (2) ◽  
pp. 123-132 ◽  
Author(s):  
Nobuo KANAZAWA
Keyword(s):  
Clinical Features ◽  
Early Onset ◽  
Gene Mutations ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

2007 ◽  
Vol 157 (6) ◽  
pp. 1257-1259 ◽  
Author(s):  
P. Coto-Segura ◽  
S. Mallo-Garcia ◽  
M. Costa-Romero ◽  
J.I. Arostegui ◽  
J. Yague ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Sporadic Case ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report

2020 ◽  
Vol 18 ◽  
pp. 100714
Author(s):  
María Alejandra Marín-Noriega ◽  
Juliana Muñoz-Ortiz ◽  
Catalina Mosquera ◽  
Alejandra de-la-Torre
Keyword(s):  
Case Report ◽  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed

Rheumatology ◽  
2020 ◽  
Vol 59 (5) ◽  
pp. 1190-1190
Author(s):  
Jessica C Ellis ◽  
Benjamin G Faber ◽  
Ishaq F Uri ◽  
Sarah J Emerson
Keyword(s):  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease

RMD Open ◽  
2015 ◽  
Vol 1 (1) ◽  
pp. e000097 ◽  
Author(s):  
Francesco Caso ◽  
Paola Galozzi ◽  
Luisa Costa ◽  
Paolo Sfriso ◽  
Luca Cantarini ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis ◽  
Granulomatous Diseases

scholarly journals Thalidomide dramatically improves the symptoms of early-onset Sarcoidosis/Blau syndrome: Its possible action and mechanism

2010 ◽  
Vol 62 (1) ◽  
pp. 250-257 ◽  
Author(s):  
Kozo Yasui ◽  
Masato Yashiro ◽  
Mitsuru Tsuge ◽  
Akira Manki ◽  
Kei Takemoto ◽  
...  
Keyword(s):  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Tomoyuki Iwasaki ◽  
Naoe Kaneko ◽  
Yuki Ito ◽  
Hiroyuki Takeda ◽  
Tatsuya Sawasaki ◽  
...  
Keyword(s):  
Drug Discovery ◽  
Early Onset ◽  
Adaptor Protein ◽  
Dependent Manner ◽  
Blau Syndrome ◽  
Free System ◽  
Cell Free System ◽  
A Cell ◽  
Early Onset Sarcoidosis

Nucleotide-binding oligomerization domain-containing protein (Nod) 2 is an intracellular pattern recognition receptor, which recognizes muramyl dipeptide (N-Acetylmuramyl-L-Alanyl-D-Isoglutamine: MDP), a bacterial peptidoglycan component, and makes a NF-κB-activating complex called nodosome with adaptor protein RICK (RIP2/RIPK2). Nod2 mutants are associated with the autoinflammatory diseases, Blau syndrome (BS)/early-onset sarcoidosis (EOS). For drug discovery of BS/EOS, we tried to develop Nod2-nodosome in a cell-free system. FLAG-tagged RICK, biotinylated-Nod2, and BS/EOS-associated Nod2 mutants were synthesized, and proximity signals between FLAG-tagged and biotinylated proteins were detected by amplified luminescent proximity homogeneous assay (ALPHA). Upon incubation with MDP, the ALPHA signal of interaction between Nod2-WT and RICK was increased in a dose-dependent manner. The ALPHA signal of interaction between RICK and the BS/EOS-associated Nod2 mutants was more significantly increased than Nod2-WT. Notably, the ALPHA signal between Nod2-WT and RICK was increased upon incubation with MDP, but not when incubated with the same concentrations, L-alanine, D-isoglutamic acid, or the MDP-D-isoform. Thus, we successfully developed Nod2-nodosome in a cell-free system reflecting its function in vivo, and it can be useful for screening Nod2-nodosome-targeted therapeutic molecules for BS/EOS and granulomatous inflammatory diseases.

scholarly journals Early onset sarcoidosis (Blau syndrome): erosive and often misdiagnosed

Rheumatology ◽  
2019 ◽  
Vol 59 (5) ◽  
pp. 1179-1180
Author(s):  
Jessica C Ellis ◽  
Benjamin G Faber ◽  
Ishaq F Uri ◽  
Sarah J. Emerson
Keyword(s):  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

2014 ◽  
Vol 13 (12) ◽  
pp. 1220-1229 ◽  
Author(s):  
Francesco Caso ◽  
Luisa Costa ◽  
Donato Rigante ◽  
Antonio Vitale ◽  
Rolando Cimaz ◽  
...  
Keyword(s):  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

scholarly journals A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Fumiko Okazaki ◽  
Hiroyuki Wakiguchi ◽  
Yuno Korenaga ◽  
Tamaki Nakamura ◽  
Hiroki Yasudo ◽  
...  
Keyword(s):  
Early Onset ◽  
Propionibacterium Acnes ◽  
Novel Mutation ◽  
Granulomatous Inflammation ◽  
Joint Involvement ◽  
Ocular Involvement ◽  
Dependent Manner ◽  
Blau Syndrome ◽  
Genetic Analyses ◽  
Early Onset Sarcoidosis

Abstract Background Early-onset sarcoidosis (EOS) and Blau syndrome (BS) are systemic inflammatory granulomatous diseases without visible pulmonary involvement, and are distinguishable from their sporadic and familial forms. The diseases are characterized by a triad of skin rashes, symmetrical polyarthritis, and recurrent uveitis. The most common morbidity is ocular involvement, which is usually refractory to conventional treatment. A gain-of-function mutation in the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene has been demonstrated in this disease; however, little is known about the relationship between the activation of NOD2 and the pathophysiology of EOS/BS. Here we describe EOS/BS with a novel mutation in the NOD2 gene, as well as detection of Propionibacterium acnes (P. acnes) in the granulomatous inflammation. Case presentation An 8-year-old Japanese girl presented with refractory bilateral granulomatous panuveitis. Although no joint involvement was evident, she exhibited skin lesions on her legs; a skin biopsy revealed granulomatous dermatitis, and P. acnes was detected within the sarcoid granulomas by immunohistochemistry with P. acnes-specific monoclonal (PAB) antibody. Genetic analyses revealed that the patient had a NOD2 heterozygous D512V mutation that was novel and not present in either of her parents. The mutant NOD2 showed a similar activation pattern to EOS/BS, thus confirming her diagnosis. After starting oral prednisolone treatment, she experienced an anterior vitreous opacity relapse despite gradual prednisolone tapering; oral methotrexate was subsequently administered, and the patient responded positively. Conclusions We presented a case of EOS/BS with a novel D512V mutation in the NOD2 gene. In refractory granulomatous panuveitis cases without any joint involvement, EOS/BS should be considered as a differential diagnosis; genetic analyses would lead to a definite diagnosis. Moreover, this is the first report of P. acnes demonstrated in granulomas of EOS/BS. Since intracellular P. acnes activates nuclear factor-kappa B in a NOD2-dependent manner, we hypothesized that the mechanism of granuloma formation in EOS/BS may be the result of NOD2 activity in the presence of the ligand muramyl dipeptide, which is a component of P. acnes. These results indicate that recognition of P. acnes through mutant NOD2 is the etiology in this patient with EOS/BS.

scholarly journals Early-onset sarcoidosis/Blau syndrome

2011 ◽  
Vol 34 (5) ◽  
pp. 378-381 ◽  
Author(s):  
Naotomo KAMBE ◽  
Takashi SATOH ◽  
Michiyo NAKANO ◽  
Yuumi NAKAMURA ◽  
Hiroyuki MATSUE
Keyword(s):  
Early Onset ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis
Sign in / Sign up

Export Citation Format

Share Document