scholarly journals Blau Syndrome–Associated Nod2 Mutation Alters Expression of Full-Length NOD2 and Limits Responses to Muramyl Dipeptide in Knock-in Mice

2014 ◽  
Vol 194 (1) ◽  
pp. 349-357 ◽  
Author(s):  
Jae Dugan ◽  
Eric Griffiths ◽  
Paige Snow ◽  
Holly Rosenzweig ◽  
Ellen Lee ◽  
...  
Keyword(s):  
Muramyl Dipeptide ◽  
Full Length ◽  
Blau Syndrome ◽  
Nod2 Mutation

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.

AB0029 Preliminary results on functional analysis of a card15/nod2 mutation (P.E383K) in patients with BLAU syndrome

2013 ◽  
Vol 71 (Suppl 3) ◽  
pp. 639.4-639
Author(s):  
P. Galozzi ◽  
E. Greco ◽  
A. Gava ◽  
P. Sfriso ◽  
D. Basso ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Preliminary Results

Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation

2012 ◽  
Vol 39 (9) ◽  
pp. 1888-1892 ◽  
Author(s):  
RAJU P. KHUBCHANDANI ◽  
RACHANA HASIJA ◽  
ISABELLE TOUITOU ◽  
CHETNA KHEMANI ◽  
CARINE H. WOUTERS ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Blau Syndrome ◽  
Current Case ◽  
Nod2 Mutation ◽  
Nucleotide Oligomerization ◽  
Exon 4 ◽  
Clinical Description ◽  
Takayasu Disease ◽  
Nucleotide Oligomerization Domain ◽  
Oligomerization Domain

Objective.To put forward a new concept — Blau arteritis, a form of large-vessel vasculitis phenotypically related to Takayasu disease but genetically and clinically part of an expanded phenotype of Blau syndrome.Methods.We provide a clinical description of a new case and summarize previously published cases of arteritis associated with Blau syndrome. Genetic testing was performed by direct sequencing of exon 4 of the NOD2 gene.Results.The case described and those reviewed from the literature demonstrate the emerging phenotype of Takayasu-like arteritis in patients with Blau syndrome. Although most patients described to date depict an otherwise classic Blau syndrome phenotype, the current case was atypical in that the predominant features were arteritic. A novel substitution, G464W, in a highly conserved position near the nucleotide oligomerization domain of the NOD2 protein is also described.Conclusion.Blau arteritis can be observed in the context of both typical and atypical (incomplete) Blau syndrome. The associated mutation in the NOD2 gene raises the question of the potential importance of this gene among patients with “primary” forms of Takayasu arteritis.

scholarly journals A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function

2017 ◽  
Vol 23 (7) ◽  
pp. 578-583 ◽  
Author(s):  
Lawrence TC Ong ◽  
Ueli Nachbur ◽  
Dorota Rowczenio ◽  
John B Ziegler ◽  
Eddy Fischer ◽  
...  
Keyword(s):  
Early Onset ◽  
Nucleotide Binding ◽  
Autoinflammatory Diseases ◽  
Blau Syndrome ◽  
Nucleotide Binding Domain ◽  
Nod2 Mutation ◽  
Signaling Protein ◽  
Constitutive Activation ◽  
Early Onset Sarcoidosis ◽  
And Function

Mutations in the nucleotide binding domain of the PRR, NOD2, are associated with the autoinflammatory diseases Blau syndrome and early-onset sarcoidosis. Current theories suggest that constitutive activation of the NOD2 pathway may be responsible for pathogenesis of these diseases. Here, we report the phenotype of a kindred with Blau syndrome caused by a novel NOD2 mutation (p.E383D). Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome.

scholarly journals Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome

Life ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 1433
Author(s):  
Toshihiko Matsuo ◽  
Masato Yashiro ◽  
Osamu Yamasaki ◽  
Takehiro Tanaka ◽  
Akira Manki
Keyword(s):  
Optic Disc ◽  
Early Onset ◽  
Autoinflammatory Diseases ◽  
Periodic Syndrome ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Optic Disc Swelling ◽  
Systemic Symptoms ◽  
Early Onset Sarcoidosis ◽  
Ocular Sign

The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with CARD15/NOD2 mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with CARD15/NOD2 mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with NLRP3 mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases.

Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation

Ophthalmology ◽  
2003 ◽  
Vol 110 (10) ◽  
pp. 2040-2044 ◽  
Author(s):  
Toru Kurokawa ◽  
Takanobu Kikuchi ◽  
Kouichi Ohta ◽  
Hiroki Imai ◽  
Nagahisa Yoshimura
Keyword(s):  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Ocular Manifestations

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

2013 ◽  
Vol 23 (4) ◽  
pp. 837-839 ◽  
Author(s):  
Yuzaburo Inoue ◽  
Yasushi Kawaguchi ◽  
Naoki Shimojo ◽  
Kenichi Yamaguchi ◽  
Yoshinori Morita ◽  
...  
Keyword(s):  
Takayasu Arteritis ◽  
Early Onset ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Early Onset Sarcoidosis ◽  
Unusual Phenotype

Blau Syndrome Associated With a CARD15/NOD2 Mutation

2006 ◽  
Vol 142 (6) ◽  
pp. 1089-1092 ◽  
Author(s):  
Bernadette Snyers ◽  
Karin Dahan
Keyword(s):  
Blau Syndrome ◽  
Nod2 Mutation

In Situ Localization of PPAR Gamma and Uncoupling Protein in Mouse Embryo Sections Using Digoxigenin-Labeled Riboprobes

1996 ◽  
Vol 54 ◽  
pp. 32-33
Author(s):  
C. Jennermann ◽  
S. A. Kliewer ◽  
D. C. Morris
Keyword(s):  
Alkaline Phosphatase ◽  
Room Temperature ◽  
Uncoupling Protein ◽  
Ppar Gamma ◽  
Nuclear Hormone Receptor ◽  
Full Length ◽  
Northern Analysis ◽  
Peroxisome Proliferator

Peroxisome proliferator-activated receptor gamma (PPARg) is a member of the nuclear hormone receptor superfamily and has been shown in vitro to regulate genes involved in lipid metabolism and adipocyte differentiation. By Northern analysis, we and other researchers have shown that expression of this receptor predominates in adipose tissue in adult mice, and appears first in whole-embryo mRNA at 13.5 days postconception. In situ hybridization was used to find out in which developing tissues PPARg is specifically expressed.Digoxigenin-labeled riboprobes were generated using the Genius™ 4 RNA Labeling Kit from Boehringer Mannheim. Full length PPAR gamma, obtained by PCR from mouse liver cDNA, was inserted into pBluescript SK and used as template for the transcription reaction. Probes of average size 200 base pairs were made by partial alkaline hydrolysis of the full length transcripts. The in situ hybridization assays were performed as described previously with some modifications. Frozen sections (10 μm thick) of day 18 mouse embryos were cut, fixed with 4% paraformaldehyde and acetylated with 0.25% acetic anhydride in 1.0M triethanolamine buffer. The sections were incubated for 2 hours at room temperature in pre-hybridization buffer, and were then hybridized with a probe concentration of 200μg per ml at 70° C, overnight in a humidified chamber. Following stringent washes in SSC buffers, the immunological detection steps were performed at room temperature. The alkaline phosphatase labeled, anti-digoxigenin antibody and detection buffers were purchased from Boehringer Mannheim. The sections were treated with a blocking buffer for one hour and incubated with antibody solution at a 1:5000 dilution for 2 hours, both at room temperature. Colored precipitate was formed by exposure to the alkaline phosphatase substrate nitrobluetetrazoliumchloride/ bromo-chloroindlylphosphate.

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