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Blau syndrom

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https://www.readbyqxmd.com/read/29749397/recurrent-somatic-mutations-are-rare-in-patients-with-cryptic-dyskeratosis-congenita
#1
Martin Kirschner, Angela Maurer, Marcin W Wlodarski, Monica S Ventura Ferreira, Anne-Sophie Bouillon, Insa Halfmeyer, Wolfgang Blau, Michael Kreuter, Martin Rosewich, Selim Corbacioglu, Joachim Beck, Michaela Schwarz, Jörg Bittenbring, Markus P Radsak, Christian Matthias Wilk, Steffen Koschmieder, Matthias Begemann, Ingo Kurth, Mirle Schemionek, Tim H Brümmendorf, Fabian Beier
Dyskeratosis congenita (DKC) is a paradigmatic telomere disorder characterized by substantial and premature telomere shortening, bone marrow failure, and a dramatically increased risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). DKC can occur as a late-onset, so-called cryptic form, with first manifestation in adults. Somatic MDS-related mutations are found in up to 35% of patients with acquired aplastic anemia (AA), especially in patients with short telomeres. The aim of our study was to investigate whether cryptic DKC is associated with an increased incidence of MDS-related somatic mutations, thereby linking the accelerated telomere shortening with the increased risk of MDS/AML...
April 2, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29697845/novel-nod2-mutation-in-early-onset-inflammatory-bowel-phenotype
#2
Martina Girardelli, Claudia Loganes, Alessia Pin, Elisabetta Stacul, Eva Decleva, Diego Vozzi, Gabriele Baj, Costantino De Giacomo, Alberto Tommasini, Anna Monica Bianco
Background: Nucleotide-binding oligomerization domain 2 (NOD2) is a key intracellular protein of the innate immune system. NOD2 variants are associated with inflammatory bowel disease (IBD) and other inflammatory phenotypes. We described the case of a baby with a very early-onset IBD who is characterized by a rare homozygous variant in NOD2, found through whole-exome sequencing, Its pathogenic effect was investigated through bioinformatics and functional studies. Methods: The microbicide activity of the patient's phagocytes was analyzed using Escherichia coli...
April 25, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29570830/familial-blau-syndrome-without-uveitis-caused-by-a-novel-mutation-in-the-nucleotide-binding-oligomerization-domain-containing-protein-2-gene-with-good-response-to-infliximab
#3
Jaime Toral-López, Luz M González-Huerta, Mónica Martín-Del Campo, Olga Messina-Baas, Sergio A Cuevas-Covarrubias
The proband in this study was a 4-year-old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and DNA direct sequencing from blood samples revealed a novel nucleotide-binding oligomerization domain-containing protein 2 gene mutation in the affected family members. This study is the first report of a Mexican family with Blau syndrome showing good infliximab treatment response. The novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene (c...
March 23, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29538758/using-genes-to-triangulate-the-pathophysiology-of-granulomatous-autoinflammatory-disease-nod2-plcg2-and-lacc1
#4
Ann Marie Szymanski, Michael J Ombrello
The intersection of granulomatosis and autoinflammatory disease is a rare occurrence that can be generally subdivided into purely granulomatous phenotypes and disease spectra that are inclusive of granulomatous features. NOD2 (nucleotide-binding oligomerization domain-containing protein 2)-related disease, which includes Blau syndrome and early-onset sarcoidosis, is the prototypic example of granulomatous inflammation in the context of monogenic autoinflammation. Granulomatous inflammation has also been observed in two related autoinflammatory diseases caused by mutations in PLCG2 (phospholipase Cγ2)...
April 25, 2018: International Immunology
https://www.readbyqxmd.com/read/29471115/targeted-next-generation-sequencing-is-a-sensitive-tool-for-differential-diagnosis-of-myelodysplastic-syndromes-in-bone-marrow-trephines
#5
Andreas Bräuninger, Wolfgang Blau, Kristin Kunze, Ann-Kathrin Desch, Alexander Brobeil, Mehmet K Tur, Benjamin Etschmann, Ulrich Günther, Dieter Körholz, Georg Schliesser, Andreas Käbisch, Michael Kiehl, Mathias Rummel, Stefan Gattenlöhner
Myelodysplastic syndromes are hematological neoplasias in which immunohistologic examination of bone marrow trephines is important for a definite diagnosis. Unequivocal distinction from reactive bone marrow changes is, however, sometimes difficult. Because neoplastic clones in myelodysplastic syndrome carry mutations in recurrent genes, mutation detection by targeted next-generation sequencing may be a useful support for differential diagnosis. To elucidate the accuracy of this approach in the clinical diagnostic setting, we analyzed single and consecutive bone marrow trephines processed for immunohistologic examination from 145 patients by targeted next-generation sequencing of 12 genes recurrently mutated in myelodysplastic syndromes...
May 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29338849/the-challenge-of-blau-syndrome
#6
EDITORIAL
Gary N Holland, James T Rosenbaum
No abstract text is available yet for this article.
March 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29304271/blau-jabs-syndrome-in-a-tertiary-ophthalmologic-center
#7
Heloisa Nascimento, Jacqueline M Sousa, Délia González Fernández, Gustavo H A Salomão, Elcio H Sato, Cristina Muccioli, Rubens Belfort
In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients with clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patients; inflammation was controlled in six patients with at least one immunosuppressive drug...
January 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29210964/perivascular-granulomata-in-the-retina-demonstrated-by-en-face-optical-coherence-tomography-in-a-patient-with-blau-syndrome
#8
Erika T Friesen, Nopasak Phasukkijwatana, Irena Tsui, Meghan K Berkenstock, Gary N Holland, David Sarraf
PURPOSE: To describe the multimodal retinal imaging findings of a case of Blau syndrome. METHODS: Case report. The multimodal retinal imaging findings, including widefield angiography, cross-sectional and en face spectral domain optical coherence tomography, and optical coherence tomography angiography, of a case of Blau syndrome are described. RESULTS: A 12-year-old Hispanic girl with polyarticular arthritis, skin rash, and panuveitis was diagnosed with a rare condition referred to as Blau syndrome...
November 23, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29110911/blau-syndrome-with-good-reponses-to-tocilizumab-a-case-report-and-focused-literature-review
#9
Li Lu, Min Shen, Dongbin Jiang, Yanmin Li, Xiaolong Zheng, Yao Li, Zhixun Li, Leilei Zhang, Jungen Tang, Yanke Guo, Shengyun Liu, Zhaohui Zheng, Guanmin Gao, Quancheng Kan
OBJECTIVES: Blau syndrome (BS), a rare auto-inflammatory granulomatous disease, is a progressive disorder. Usually the maintenance dose of glucocorticoid may not be tapered below 15 mg per day while immunosuppressives is used. There has been some experience with biologic agents in refractory BS patients. The objective of this study is to describe the case of a BS patient benefiting from Tocilizumab, a humanized monoclonal antibody against interleukin 6 receptor. METHODS: We report the first Chinese patient with BS who was resistant to currently available therapies but had rapid quiescence after using Tocilizumab...
April 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28887115/blau-syndrome-associated-uveitis-preliminary-results-from-an-international-prospective-interventional-case-series
#10
Inge L Sarens, Ingele Casteels, Jordi Anton, Brigitte Bader-Meunier, Philippe Brissaud, Gaelle Chédeville, Rolando Cimaz, Andrew D Dick, Graciella Espada, Jorge Fernandez-Martin, Catherine M Guly, Eric Hachulla, Miroslav Harjacek, Raju Khubchandani, Friederike Mackensen, Rosa Merino, Consuelo Modesto, Antonio Naranjo, Sheila Oliveira-Knupp, Seza Özen, Christine Pajot, Athimalaipet V Ramanan, Ricardo Russo, Gordana Susic, Akaluck Thatayatikom, Caroline Thomée, Sebastiaan Vastert, John Bertin, Juan I Arostegui, Carlos D Rose, Carine H Wouters
PURPOSE: Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome. DESIGN: Multicenter, prospective interventional case series. METHODS: Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form. RESULTS: Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months...
March 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28886227/lung-transplantation-in-cystic-fibrosis-patients-in-israel-the-importance-of-ethnicity-and-nutritional-status
#11
Hagit Levine, Dario Prais, Yael Raviv, Victorya Rusanov, Dror Rosengarten, Milton Saute, Moshe Hoshen, Huda Mussaffi, Hannah Blau, Mordechai R Kramer
OBJECTIVES: To assess the characteristics that correlate with better outcomes after lung transplantation for patients with cystic fibrosis (CF). METHODS: We retrospectively reviewed the charts of all patients with CF who underwent lung transplantation between 1996 and 2014 at Rabin Medical Center, Israel. RESULTS: Fifty patients with CF underwent 55 lung transplantations. Eighteen patients (36%) died during the study period. Actuarial survival was 83%, 68%, 62%, and 39% at 1, 3, 5, and 10 years, respectively...
November 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28836875/a-novel-nucleotide-oligomerisation-domain-2-mutation-in-a-family-with-blau-syndrome-phenotype-and-function
#12
Lawrence Tc Ong, Ueli Nachbur, Dorota Rowczenio, John B Ziegler, Eddy Fischer, Ming Wei Lin
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...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28750667/co-existence-of-blau-syndrome-and-naid-diagnostic-challenges-associated-with-presence-of-multiple-pathogenic-variants-in-nod2-gene-a-case-report
#13
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan
BACKGROUND: Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis. Clinical form of resultant autoinflammatory condition depends on NOD2 genotype; usually patients with NOD2 defects present with Blau syndrome, NOD2-associated autoinflammatory disease (NAID) or Crohn's disease...
July 27, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28724114/oral-macrolides-for-the-dermatologic-manifestations-of-blau-syndrome
#14
Shalini Thareja, Kaitlyn Kollmann, Kaveh Ardalan, Marisa S Klein-Gitelman, Amy S Paller, Lisa M Arkin
No abstract text is available yet for this article.
July 19, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28721627/two-chinese-pedigrees-of-blau-syndrome-with-thirteen-affected-members
#15
REVIEW
Di Wu, Min Shen
Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene. BS has been widely reported in Caucasians but cases documented in China are scarce. We reported two Chinese families with BS, which were by far the two largest pedigrees in the Chinese population. We identified two unrelated families with BS. The phenotypes and genotypes of these patients were reviewed and compared with previous cohorts...
January 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/28639104/gene-mutations-and-clinical-phenotypes-in-chinese-children-with-blau-syndrome
#16
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
#17
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...
January 2018: 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
#18
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
#19
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
#20
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
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