A familial case of Blau syndrome caused by a novel<i>NOD2</i>genetic mutation

Kim, Woo-Joong; Park, Eujin; Ahn, Yo Han; Lee, Jiwon M.; Kang, Hee Gyung; Kim, Byung Joo; Ha, Ii Soo; Cheong, Hae Ii

doi:10.3345/kjp.2016.59.11.s5

Cited by 11 publications

(4 citation statements)

References 13 publications

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“…BS is an inflammatory disorder that begins in childhood and primarily affects the skin, joints, and the eyes ( 45 ). Non-inherited NOD2 gene mutations can also cause early-onset sarcoidosis (EOS), a disease similar to Blau syndrome ( 46 ). NOD2 mutations found in BS and EOS are in the NACHT-domain and lead to a spontaneous oligomerization of the protein.…”

Section: Nf-κb Pathway: General Mechanism Of Activationmentioning

confidence: 99%

NF-κB: At the Borders of Autoimmunity and Inflammation

et al. 2021

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The transcription factor NF-κB regulates multiple aspects of innate and adaptive immune functions and serves as a pivotal mediator of inflammatory response. In the first part of this review, we discuss the NF-κB inducers, signaling pathways, and regulators involved in immune homeostasis as well as detail the importance of post-translational regulation by ubiquitination in NF-κB function. We also indicate the stages of central and peripheral tolerance where NF-κB plays a fundamental role. With respect to central tolerance, we detail how NF-κB regulates medullary thymic epithelial cell (mTEC) development, homeostasis, and function. Moreover, we elaborate on its role in the migration of double-positive (DP) thymocytes from the thymic cortex to the medulla. With respect to peripheral tolerance, we outline how NF-κB contributes to the inactivation and destruction of autoreactive T and B lymphocytes as well as the differentiation of CD4+-T cell subsets that are implicated in immune tolerance. In the latter half of the review, we describe the contribution of NF-κB to the pathogenesis of autoimmunity and autoinflammation. The recent discovery of mutations involving components of the pathway has both deepened our understanding of autoimmune disease and informed new therapeutic approaches to treat these illnesses.

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Section: Nf-κb Pathway: General Mechanism Of Activationmentioning

confidence: 99%

NF-κB: At the Borders of Autoimmunity and Inflammation

et al. 2021

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“…Mutations that are most frequently present in Blau Syndrome are R334W and R334Q [ 21 , 26 ] and several more mutations have been identified in recent years [ 26 , 29 , 51 , 128 , 129 ]. Mutations in Blau Syndrome are autosomal dominant, gain of function mutations.…”

Section: Diagnostic Modalitiesmentioning

confidence: 99%

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis

Bazewicz,

Heissigerova,

Pavesio

et al. 2023

J Ophthal Inflamm Infect

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Sarcoidosis-associated uveitis, is the predominant ocular sarcoidosis presentation, which affects both adults and children. For adults, international ocular sarcoidosis criteria (IWOS) and sarcoidosis-associated uveitis criteria (SUN) are defined. However, for children they are not yet established internationally. Due to the specificity of pediatric manifestations of sarcoidosis, this task is even more challenging. In children, sarcoidosis is subdivided into Blau syndrome and early-onset sarcoidosis (BS/EOS) affecting younger children (< 5 years) and the one affecting older children with clinical presentation resembling adults. Differential diagnosis, clinical work-up as well as diagnostic criteria should be adapted to each age group. In this article, we review the clinical manifestation of sarcoidosis-associated uveitis in adults and children and the sensitivity and specificity of various ocular sarcoidosis diagnostic modalities, including chest X-ray and CT, FDG PET-CT, gallium-67 scintigraphy, bronchoalveolar lavage fluid, genetic testing for NOD2 mutations and serum biomarkers, such as ACE, lysozyme and IL2R.

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“…Blau syndrome (juvenile sarcoidosis) is a rare autosomal dominant inflammatory syndrome caused by a mutation in the NOD2 gene which affects the skin, eyes and joints 1…”

Section: Introductionmentioning

confidence: 99%

Common condition with uncommon cause: fungal folliculitis in immunosuppressed patient with Blau syndrome

2022

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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 in the community. Despite of the negative skin swab and negative periodic acid-schiff (PAS)stain on the skin biopsy, clinical diagnosis was fungal folliculitis and patient responded well to the course of itraconazole.

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A familial case of Blau syndrome caused by a novelNOD2genetic mutation

Cited by 11 publications

References 13 publications

NF-κB: At the Borders of Autoimmunity and Inflammation

NF-κB: At the Borders of Autoimmunity and Inflammation

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis

Common condition with uncommon cause: fungal folliculitis in immunosuppressed patient with Blau syndrome

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