Early-onset sarcoidosis with R334Q mutation in the NOD2 gene

2021 ◽  
Author(s):  
Esra Bağlan ◽  
Semanur Özdel ◽  
H. Baran Özdemir ◽  
Müge Pınar Çakar Özdal ◽  
Mehmet Bülbül
Keyword(s):  
Early Onset ◽  
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

Reply to: Monogenic early-onset sarcoidosis is no longer a variant of “idiopathic” sarcoidosis

2013 ◽  
Vol 69 (1) ◽  
pp. 165
Author(s):  
Adele Haimovic ◽  
Miguel Sanchez ◽  
Marc A. Judson ◽  
Stephen Prystowsky
Keyword(s):  
Early Onset ◽  
Early Onset Sarcoidosis

scholarly journals Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15

Rheumatology ◽  
2009 ◽  
Vol 48 (6) ◽  
pp. 706-707 ◽  
Author(s):  
S. Okada ◽  
N. Konishi ◽  
M. Tsumura ◽  
K. Shirao ◽  
S. Yasunaga ◽  
...  
Keyword(s):  
Early Onset ◽  
Heterozygous Mutation ◽  
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.

Sarkoidose im Kindes- und Jugendalter

2013 ◽  
Vol 33 (04) ◽  
pp. 257-260 ◽  
Author(s):  
J. K. H. Brunner
Keyword(s):  
Early Onset ◽  
Morbus Boeck ◽  
Early Onset Sarcoidosis ◽  
Klinische Manifestation ◽  
Immunsuppressive Behandlung ◽  
Spezifische Symptome ◽  
Familiäre Häufung

ZusammenfassungDie Sarkoidose (Morbus Boeck, Morbus Schaumann-Besnier) ist eine chronisch granulomatöse Multisystemerkrankung mit nicht vollständig geklärter Genese. Bei Jugendlichen ist sie eine ungewöhnliche Erkrankung, die sich mit einer Lungen- und Lymphknotenbeteiligung manifestieren kann. Im Kleinkindalter präsentiert sie sich typischerweise mit der Kombination von Arthritis, Uveitis und Exanthem (early onset sarcoidosis). Tritt eine familiäre Häufung auf (Blau-Syndrom), finden sich Mutationen in der Nucleotid-bindenden Domaine (NBD) von CARD15/NOD2 auf Chromosom 16. Es gibt deutliche Hinweise, dass der Sarkoidose eine immunologische Dysregulation zugrunde liegt, deren klinische Manifestation nahezu alle Organe betreffen kann. Spezifische Symptome entstehen durch die örtliche Gewebeinfiltration mit Granulomen. Die Diagnose wird durch den histologischen Nachweis von Sarkoidosegranulomen bestätigt. Bei vielen Patienten ist neben einer symptomatischen Therapie eine immunsuppressive Behandlung erforderlich.

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