TNF-Targeting Treatment Corrects Proinflammatory Signatures of Autoinflammatory Blau Syndrome

2021 ◽  
Author(s):  
Naotomo Kambe
Keyword(s):  
Blau Syndrome

scholarly journals NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 117
Author(s):  
Akiko Arakawa ◽  
Naotomo Kambe ◽  
Ryuta Nishikomori ◽  
Akiyo Tanabe ◽  
Masamichi Ueda ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Topical Corticosteroid ◽  
Genetic Background ◽  
Skin Lesions ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Bcg Vaccination ◽  
Cystic Tumors ◽  
Ophthalmologic Examination ◽  
Inflammatory Changes

We describe a patient who developed multiple granulomatous skin lesions after Bacille de Calmette et Guérin (BCG) vaccination without significant effect by topical corticosteroid, followed by painless cystic tumors on the bilateral knees and hands and inflammatory changes on ophthalmologic examination. A functional mutation in NOD2 was detected by a genetic analysis, and he was diagnosed as sporadic Blau syndrome. Since NOD2 acts as a sensor for the BCG component, it is possible that BCG vaccination may trigger granuloma formation in Blau syndrome patients with such genetic background.

AB0915 A Low-Penetrance NLRP3 Variant in A NOD2 Carrier Possibly Worsens The Phenotype of Blau Syndrome

2016 ◽  
Vol 75 (Suppl 2) ◽  
pp. 1215.1-1215
Author(s):  
P. Galozzi ◽  
P. Sfriso ◽  
D. Basso ◽  
A. Scanu ◽  
F. Oliviero ◽  
...  
Keyword(s):  
Blau Syndrome

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 A case of hydrocephalus during the course of sporadic Blau syndrome

2021 ◽  
Author(s):  
Akiko Deguchi ◽  
Tomoo Mano ◽  
Naoki Iwasa ◽  
Maki Ozaki ◽  
Kenta Nakase ◽  
...  
Keyword(s):  
Blau Syndrome

Blau syndrome versus sarcoidosis

1991 ◽  
Vol 119 (3) ◽  
pp. 503 ◽  
Author(s):  
Susan B. Mallory ◽  
Amy Paller
Keyword(s):  
Blau Syndrome

Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2

2006 ◽  
Vol 27 (3) ◽  
pp. 257-262 ◽  
Author(s):  
Tae-Hwan Kim ◽  
Ursula Payne ◽  
Xiang Zhang ◽  
Yoichi Iwanaga ◽  
Michael P. Davey ◽  
...  
Keyword(s):  
Blau Syndrome

scholarly journals Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome

Reumatismo ◽  
2015 ◽  
Vol 66 (4) ◽  
pp. 277 ◽  
Author(s):  
P. Galozzi ◽  
O. Negm ◽  
E. Greco ◽  
N. Alkhattabi ◽  
A. Gava ◽  
...  
Keyword(s):  
Inflammatory Cytokines ◽  
Ex Vivo ◽  
Blau Syndrome ◽  
In Vitro Production ◽  
Vitro Production ◽  
Pro Inflammatory Cytokines

scholarly journals Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes

Rheumatology ◽  
2014 ◽  
Vol 54 (6) ◽  
pp. 1008-1016 ◽  
Author(s):  
C. D. Rose ◽  
S. Pans ◽  
I. Casteels ◽  
J. Anton ◽  
B. Bader-Meunier ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Functional Outcomes ◽  
Blau Syndrome ◽  
Cross Sectional
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