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Blau syndrom

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https://www.readbyqxmd.com/read/28639104/gene-mutations-and-clinical-phenotypes-in-chinese-children-with-blau-syndrome
#1
Caifeng Li, Junmei Zhang, Shipeng Li, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng, Xiaohua Tan
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28587749/pluripotent-stem-cell-models-of-blau-syndrome-reveal-an-ifn-%C3%AE-dependent-inflammatory-response-in-macrophages
#2
Sanami Takada, Naotomo Kambe, Yuri Kawasaki, Akira Niwa, Fumiko Honda-Ozaki, Kazuki Kobayashi, Mitsujiro Osawa, Ayako Nagahashi, Katsunori Semi, Akitsu Hotta, Isao Asaka, Yasuhiro Yamada, Ryuta Nishikomori, Toshio Heike, Hiroyuki Matsue, Tatsutoshi Nakahata, Megumu K Saito
BACKGROUND: Blau syndrome, or early-onset sarcoidosis, is a juvenile-onset systemic granulomatosis associated with a mutation in nucleotide-binding oligomerization domain 2 (NOD2). The underlying mechanisms of Blau syndrome leading to autoinflammation are still unclear, and there is currently no effective specific treatment for Blau syndrome. OBJECTIVES: To elucidate the mechanisms of autoinflammation in patients with Blau syndrome, we sought to clarify the relation between disease-associated mutant NOD2 and the inflammatory response in human samples...
June 3, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28570435/intermediate-uveitis-associated-with-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-syndrome
#3
Rene Y Choi, Akbar Shakoor, John Bohnsack, Albert T Vitale
BACKGROUND/PURPOSE: To report two novel cases of intermediate uveitis associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis syndrome. METHODS: Observational case reports and review of the literature. RESULTS: Both patients in this report had an established diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis syndrome before the onset of ocular inflammation. Infectious and noninfectious systemic conditions known to be associated with intermediate uveitis were excluded...
May 29, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28532706/lipogranulomatous-subconjunctival-nodules-a-novel-presentation-in-blau-syndrome
#4
Mariam Ahmad, Meghan E Hermanson, Robert Enzenauer, Alan Palestine, Clara Lin, Naomi Meeks, Emily McCourt
Blau syndrome is an early-onset granulomatous disease known to affect the skin, joints, and eyes. We report a child with diffuse rash, arthritis, and subconjunctival nodules. Biopsy of the bulbar conjunctiva revealed noncaseating lipogranulomas that lead to a diagnosis of Blau syndrome. To our knowledge, noncaseating lipogranulomas of the conjunctiva have not been reported previously as a presenting finding in Blau syndrome. Although uveitis is the classic manifestation, it is important to broaden the awareness of other ocular signs, as these variations can aid in diagnosis...
May 19, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28253332/nod2-the-intestinal-gate-keeper
#5
REVIEW
Ziad Al Nabhani, Gilles Dietrich, Jean-Pierre Hugot, Frederick Barreau
Nucleotide-binding oligomerization domain 2 (NOD2) is an intracellular pattern recognition receptor that senses bacterial peptidoglycan (PGN)-conserved motifs in cytosol and stimulates host immune response. The association of NOD2 mutations with a number of inflammatory pathologies, including Crohn disease (CD), Graft-versus-host disease (GVHD), and Blau syndrome, highlights its pivotal role in host-pathogen interactions and inflammatory response. Stimulation of NOD2 by its ligand (muramyl dipeptide) activates pro-inflammatory pathways such as nuclear factor-κB (NF-κB), mitogen-activated protein kinases (MAPKs), and Caspase-1...
March 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28220747/three-cases-of-neurologic-syndrome-caused-by-donor-derived-microsporidiosis
#6
Rachel M Smith, Atis Muehlenbachs, Joanna Schaenmann, Sanjiv Baxi, Sophia Koo, Dianna Blau, Peter Chin-Hong, Anna R Thorner, Matthew J Kuehnert, Kristina Wheeler, Alexis Liakos, Jonathan W Jackson, Theresa Benedict, Alexandre J da Silva, Jana M Ritter, Dominique Rollin, Maureen Metcalfe, Cynthia S Goldsmith, Govinda S Visvesvara, Sridhar V Basavaraju, Sherif Zaki
In April 2014, a kidney transplant recipient in the United States experienced headache, diplopia, and confusion, followed by neurologic decline and death. An investigation to evaluate the possibility of donor-derived infection determined that 3 patients had received 4 organs (kidney, liver, heart/kidney) from the same donor. The liver recipient experienced tremor and gait instability; the heart/kidney and contralateral kidney recipients were hospitalized with encephalitis. None experienced gastrointestinal symptoms...
March 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28129677/monogenic-auto-in%C3%AF-ammatory-syndromes-a-review-of-the-literature
#7
Gholamreza Azizi, Shahin Khadem Azarian, Sepideh Nazeri, Ali Mosayebian, Saleh Ghiasy, Ghazal Sadri, Ali Mohebi, Nikoo Hossein Khan Nazer, Sanaz Afraei, Abbas Mirshafiey
Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T cells, and an inborn error of innate immunity. A narrative literature review was carried out of studies related to auto-inflammatory syndromes to discuss the pathogenesis and clinical manifestation of these syndromes. This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA)...
December 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/28094163/granulomatous-histiocytic-dermatitides
#8
REVIEW
Mark R Wick
Granulomas of the skin may be classified in several ways. They are either infectious or non-infectious in character, and they contain areas of necrobiosis or necrosis, or not. Responsible infectious agents may be mycobacterial, fungal, treponemal, or parasitic organisms, and each case of granulomatous dermatitis should be assessed histochemically for those microbes. In the non-infectious group, examples of necrobiotic or necrotizing granulomas include granuloma annulare; necrobiosis lipoidica; rheumatoid nodule; and lupus miliaris disseminates faciei...
May 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28032234/the-emerging-role-of-interleukin-il-1-in-the-pathogenesis-and-treatment-of-inflammatory-and-degenerative-eye-diseases
#9
Claudia Fabiani, Jurgen Sota, Gian Marco Tosi, Rossella Franceschini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Luca Cantarini
Interleukin (IL)-1 plays a key role in the pathogenesis and thereafter in the search for specific treatments of different inflammatory and degenerative eye diseases. Indeed, an overactivity of IL-1 might be an initiating factor for many immunopathologic sceneries in the eye, as proven by the efficacy of the specific IL-1 blockade in different ocular diseases. For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers...
December 28, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/28018435/a-familial-case-of-blau-syndrome-caused-by-a-novel-nod2-genetic-mutation
#10
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27874205/blau-syndrome-a-systemic-granulomatous-disease-of-cutaneous-onset-and-phenotypic-complexity
#11
EDITORIAL
Carlos D Rose
No abstract text is available yet for this article.
March 2017: 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
November 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
#18
Kristian B Arvesen, Troels Herlin, Dorthe A Larsen, Uffe Koppelhus, Mette Ramsing, Anne-Bine Skytte, Mette Sommerlund
No abstract text is available yet for this article.
January 4, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27283905/crystal-structure-of-nod2-and-its-implications-in-human-disease
#19
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...
June 10, 2016: Nature Communications
https://www.readbyqxmd.com/read/27222657/primary-immunodeficiencies-associated-with-eosinophilia
#20
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
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