keyword
MENU ▼
Read by QxMD icon Read
search

Blau syndrom

keyword
https://www.readbyqxmd.com/read/27874205/blau-syndrome-a-systemic-granulomatous-disease-of-cutaneous-onset-and-phenotypic-complexity
#1
EDITORIAL
Carlos D Rose
No abstract text is available yet for this article.
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27790943/casting-the-critical-regions-in-nucleotide-binding-oligomerization-domain-2-protein-a-signature-mediated-structural-dynamics-approach
#2
P Raghuraman, R Jesu Jaya Sudan, J Lesitha Jeeva Kumari, C Sudandiradoss
Nucleotide binding oligomerization domain 2 (NOD2), a protein involved in the first line defence mechanism has a pivotal role in innate immunity. Impaired function of this protein is implicated in disorders such as Blau syndrome and Crohn's disease. Since an altered function is linked to protein's structure, we framed a systematic strategy to interpret the structure-function relationship of the protein. Initiated with mutation-based pattern prediction and identified a distant ortholog (DO) of NOD2 from which the intra-residue interaction network was elucidated...
November 16, 2016: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/27755121/vasculitis-in-the-autoinflammatory-diseases
#3
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
January 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27625029/a-novel-mutation-in-helical-domain-2-of-nod2-in-sporadic-blau-syndrome
#4
Lubhani Jain, Namrata Gupta, Mamatha M Reddy, Ruchi Mittal, Manas Ranjan Barik, Bharat Panigrahi, Tom Monie, Soumyava Basu
We report a 12-year-old girl who presented with bilateral granulomatous anterior uveitis accompanied by boggy arthritis of knee and ankle joints, intermittent fever, and nodular skin rash. She was diagnosed with sporadic Blau syndrome (early-onset sarcoidosis) based on above clinical signs and presence of non-necrotising granuloma on iris biopsy. DNA sequencing revealed a previously unreported heterozygous mutation consisting of a G>A transition in exon 4 of the NOD2 gene. This resulted in a glutamic acid to lysine substitution in helical domain 2 of the nucleotide binding and oligomerization (NACHT) region, possibly reducing efficiency of auto-inhibition in NOD2 signaling...
September 13, 2016: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27419275/a-novel-nod2-associated-mutation-and-variant-blau-syndrome-phenotype-and-molecular-analysis
#5
Nazanin Ebrahimiadib, Khawla Abu Samra, Aaron M Domina, Ethan R Stiles, Roger Ewer, Charlie P Bocian, C Stephen Foster
PURPOSE: To describe the clinical and molecular implications of a novel mutation in the NOD2/CARD15 gene on a family and its seven affected members. METHODS: We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed. RESULTS: All affected members had adult onset recurrent non-granulomatous panuveitis. The inheritance pattern suggested an autosomal dominant disease and genetic analysis identified a novel mutation in the NOD2 gene that converted amino acid 600 from glutamate to alanine (E600A)...
July 15, 2016: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27403452/nod2-nodosome-in-a-cell-free-system-implications-in-pathogenesis-and-drug-discovery-for-blau-syndrome-and-early-onset-sarcoidosis
#6
Tomoyuki Iwasaki, Naoe Kaneko, Yuki Ito, Hiroyuki Takeda, Tatsuya Sawasaki, Toshio Heike, Kiyoshi Migita, Kazunaga Agematsu, Atsushi Kawakami, Shinnosuke Morikawa, Sho Mokuda, Mie Kurata, Junya Masumoto
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...
2016: TheScientificWorldJournal
https://www.readbyqxmd.com/read/27339507/a-case-of-blau-syndrome-with-nod2-e383k-mutation
#7
Jun Harada, Takeshi Nakajima, Nobuo Kanazawa
We report a 3.5-year-old Japanese boy who developed lichenoid papules and erythema with noncaseating epithelioid cell granulomas with a scant lymphocytic infiltrate histologically on his limbs at the age of 8 months. Genetic analysis of the patient and his parents, who had no medical past history, revealed heterozygous 1147G>A (E383K) mutation of NOD2 in the patient and in his father, so the patient was diagnosed with Blau syndrome and his father as an asymptomatic carrier. Although Blau syndrome has been reported as a genetic disease with high penetrance, asymptomatic carrier cases of a family with the same E383K mutation have also been reported...
June 24, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27304707/diagnosis-and-treatment-of-blau-syndrome-early-onset-sarcoidosis-an-autoinflammatory-granulomatous-disease-in-an-infant
#8
Kristian B Arvesen, Troels Herlin, Dorthe A Larsen, Uffe Koppelhus, Mette Ramsing, Anne-Bine Skytte, Mette Sommerlund
is missing (Short communication).
June 15, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27283905/crystal-structure-of-nod2-and-its-implications-in-human-disease
#9
Sakiko Maekawa, Umeharu Ohto, Takuma Shibata, Kensuke Miyake, Toshiyuki Shimizu
Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), a member of the NOD-like receptors family, are crucial for innate immune responses. Mutations of NOD2 have been associated with chronic inflammatory disorders such as Crohn's disease (CD), Blau syndrome (BS) and early-onset sarcoidosis (EOS), but little is known about its signalling mechanism and the role it plays in these diseases. Here, we report the crystal structure of rabbit NOD2 in an ADP-bound state. The structure reveals an inactive closed conformation in which the subdomains in the NOD domain are closely packed by ADP-mediated and inter-domain interactions...
2016: Nature Communications
https://www.readbyqxmd.com/read/27222657/primary-immunodeficiencies-associated-with-eosinophilia
#10
REVIEW
Behdad Navabi, Julia Elizabeth Mainwaring Upton
BACKGROUND: Eosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia...
2016: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/26897858/-pathogenesis-and-clinical-examination-of-autoinflammatory-syndrome
#11
REVIEW
Hiroaki Ida
Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways...
October 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
https://www.readbyqxmd.com/read/26830550/mildly-compromised-tetrahydrobiopterin-cofactor-biosynthesis-due-to-pts-variants-leads-to-unusual-body-fat-distribution-and-abdominal-obesity-in-mice
#12
Germaine Korner, Tanja Scherer, Dea Adamsen, Alexander Rebuffat, Mark Crabtree, Anahita Rassi, Rossana Scavelli, Daigo Homma, Birgit Ledermann, Daniel Konrad, Hiroshi Ichinose, Christian Wolfrum, Marion Horsch, Birgit Rathkolb, Martin Klingenspor, Johannes Beckers, Eckhard Wolf, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Nenad Blau, Jan Rozman, Beat Thöny
Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of its biosynthesis is thought to ameliorate endothelial NOS (eNOS) dysfunction, to protect from (cardio-) vascular disease and/or prevent obesity and development of the metabolic syndrome. We have previously reported that homozygous knock-out mice for the 6-pyruvolytetrahydropterin synthase (PTPS; Pts-ko/ko) mice with no BH4 biosynthesis die after birth...
March 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/26768519/granulomatous-skin-involvement-in-a-patient-with-an-unusual-nod2-mutation
#13
Ifedayo O Kuye, Morayo Adisa, Rosalynn M Nazarian, Sheila L Arvikar, Gideon P Smith
Blau syndrome is a rare disorder that is classically characterised by granulomatous arthritis, skin eruptions and uveitis, which occur in the absence of lung involvement. Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form. The most commonly observed mutations are missense substitutions affecting the arginine residue at position 334. The rare E600A mutation has been described as causing uveitis without skin involvement. Our patient is a 54-year-old man with an unusual heterozygous c...
January 14, 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/26712281/exacerbation-of-symptoms-in-blau-syndrome-early-onset-sarcoidosis-following-delivery
#14
LETTER
Megumi Mizawa, Teruhiko Makino, Tomoko Nakamura, Satoshi Yamaguchi, Hirofumi Taki, Tadamichi Shimizu
No abstract text is available yet for this article.
November 2015: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/26606664/brief-report-first-identification-of-intrafamilial-recurrence-of-blau-syndrome-due-to-gonosomal-nod2-mosaicism
#15
Anna Mensa-Vilaro, Weng Tarng Cham, Swee Ping Tang, Sern Chin Lim, Eva González-Roca, Estibaliz Ruiz-Ortiz, Roziana Ariffin, Jordi Yagüe, Juan I Aróstegui
OBJECTIVE: Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome. METHODS: We studied a family with 3 affected members across 2 consecutive generations. The children's symptoms started early (at 6 and 7 months of age) and included polyarthritis, dermatitis, uveitis, and fever...
April 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/26524899/-diagnosis-and-clinical-examination-of-autoinflammatory-syndrome
#16
REVIEW
Hiroaki Ida
Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways...
May 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
https://www.readbyqxmd.com/read/26517420/role-of-nod2-pathway-genes-in-sarcoidosis-cases-with-clinical-characteristics-of-blau-syndrome
#17
Ghalib A Bello, Indra Adrianto, Gerard G Dumancas, Albert M Levin, Michael C Iannuzzi, Benjamin A Rybicki, Courtney Montgomery
No abstract text is available yet for this article.
November 1, 2015: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/26509073/autoinflammatory-granulomatous-diseases-from-blau-syndrome-and-early-onset-sarcoidosis-to-nod2-mediated-disease-and-crohn-s-disease
#18
REVIEW
Francesco Caso, Paola Galozzi, Luisa Costa, Paolo Sfriso, Luca Cantarini, Leonardo Punzi
The recent identification of genetic mutations leading to dysfunction of inflammatory and apoptotic pathways, has allowed to characterise a group of diseases, recognised as monogenic autoinflammatory syndromes. Among those, Blau syndrome (BS) and early-onset sarcoidosis (EOS) have been identified as familial and sporadic phenotypes of the same non-caseating granulomatous form. Both the diseases are caused by mutations in the CARD15/NOD2 gene, encoding the cytosolic NOD2 protein, one of the key molecules in the regulation of innate immunity...
2015: RMD Open
https://www.readbyqxmd.com/read/26449230/successful-treatment-with-adalimumab-for-severe-multifocal-choroiditis-and-panuveitis-in-presumed-early-onset-ocular-sarcoidosis
#19
Marino Achille, Pagnini Ilaria, Giani Teresa, Caputo Roberto, Arapi Ilir, Neri Piergiorgio, Cimaz Rolando, Simonini Gabriele
Early-onset sarcoidosis (EOS) and Blau syndrome are rare auto-inflammatory diseases characterized by a triad of skin rash, granulomatous uveitis, and symmetrical polyarthritis occurring in early childhood. In this paper, we describe a case report very interesting for the multidisciplinary management (pediatric rheumatologist and ophthalmologist), the challenging diagnosis and the difficult choice of the best treatment. We describe a case report of an 8-year old with recurrent episodes of acute uveitis that developed bilateral granulomatous panuveitis initially treated with topical and systemic steroids...
February 2016: International Ophthalmology
https://www.readbyqxmd.com/read/26438151/the-common-nod2-card15-variant-p268s-in-patients-with-non-infectious-uveitis-a-cohort-study
#20
E Marrani, R Cimaz, O M Lucherini, R Caputo, A Vitale, L Cantarini, G Simonini
BACKGROUND: The etiology of Autoimmune chronic uveitis (ACU) is still unknown; NOD2/CARD15 gene mutations are responsible for the Blau Syndrome and can induce uveitis in animal models. PRESENTATION OF THE HYPOTHESIS: Aim of our study was to assess if NOD2/CARD15 variants have a role in the etiology or in the clinical course of patients with ACU, either idiopathic or associated with other inflammatory diseases. TESTING THE HYPOTHESIS: We consecutively enrolled 25 patients (19 pediatric and 6 adults) affected with ACU...
2015: Pediatric Rheumatology Online Journal
keyword
keyword
101906
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"