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https://www.readbyqxmd.com/read/30099592/a-retrospective-study-comparing-the-phenotype-and-outcomes-of-patients-with-polyarteritis-nodosa-between-uk-and-turkish-cohorts
#1
Omer Karadag, Abdulsamet Erden, Yelda Bilginer, Seerapani Gopaluni, Alper Sari, Berkan Armagan, Ihsan Ertenli, Seza Ozen, David Jayne
There is a need for better definition of polyarteritis nodosa (PAN) subphenotypes and the influence of ethnicity and geography. This study is aimed to study the demographic and clinical features of PAN cohorts from the UK and Turkey (TR) and to compare and contrast disease characteristics. A retrospective survey of databases from two vasculitis centres between 1990 and 2016 for PAN patients fulfilling the EMEA Vasculitis Classification algorithm. All paediatric-onset adult patients met the Ankara 2008 (EULAR/PReS endorsed) criteria for childhood PAN...
August 11, 2018: Rheumatology International
https://www.readbyqxmd.com/read/30047330/vasculitis-decade-in-review
#2
Selcan Demir, Hafize Emine Sonmez, Seza OZen
In the last decade we have come to better understand and manage the vasculitides. Classification of vasculitides has been revised. Genome- wide association studies and linkage analyses have been undertaken in hope of better understanding the pathogenesis of vasculitides. Comprehensive genetic studies have highlighted new pathways that may guide us in more targeted therapies. Description of the monogenic forms of vasculitis, such as deficiency of adenosine deaminase type 2 (DADA2), haploinsufficiency of A20 (HA20), have introduced a new perspective to vasculopathies, and introduced alternative treatments for these diseases...
July 25, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29963054/deficiency-of-adenosine-deaminase-2-in-adult-siblings-many-years-of-a-misdiagnosed-disease-with-severe-consequences
#3
Jason Michael Springer, Selina A Gierer, Hong Jiang, David Kleiner, Natalie Deuitch, Amanda K Ombrello, Peter C Grayson, Ivona Aksentijevich
Objective: Describe the clinical characteristics and histopathology findings in a family with two siblings affected with deficiency of adenosine deaminase 2 (DADA2). Both patients presented in childhood with polyarthritis and developed significant neurological and gastrointestinal features of DADA2 in ear, including variable degrees of immunologic and hematologic manifestations. Methods: Adenosine Deaminase 2 (ADA2; also known as cat eye syndrome chromosome region, candidate 1 gene; CECR1) exon sequencing and serum ADA2 levels were performed to confirm the diagnosis of DADA2...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29951947/deficiency-of-adenosine-deaminase-2-dada2-updates-on-the-phenotype-genetics-pathogenesis-and-treatment
#4
REVIEW
Isabelle Meyts, Ivona Aksentijevich
Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimerization, and secretion. Vasculopathy ranging from livedo reticularis to polyarteritis nodosa (PAN) and life-threatening ischemic and/or hemorrhagic stroke dominate the clinical features of DADA2...
July 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29913178/deficiency-of-adenosine-deaminase-2-special-focus-on-central-nervous-system-imaging
#5
Elif Bulut, Abdulsamet Erden, Omer Karadag, Kader Karli Oguz, Seza Ozen
PURPOSE: To increase the knowledge of central nervous system (CNS) imaging features in deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging (MRI) studies of a relatively large number of patients. METHODS: We retrospectively examined neuroimages of 12 patients (7 male, 5 female) diagnosed with DADA2. The mean age of the patients at the time of initial brain MRI was 16.7±10.2 years. Seven patients (58.3%) fulfilled the classification criteria of polyarteritis nodosa...
June 18, 2018: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/29681619/a-decision-tree-for-the-genetic-diagnosis-of-deficiency-of-adenosine-deaminase-2-dada2-a-french-reference-centres-experience
#6
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing. Detailed epidemiological, clinical and biological features were collected by use of a questionnaire and were compared between patients with and without genetic confirmation of DADA2...
July 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29608151/guided-protocol-for-fecal-microbial-characterization-by-16s-rrna-amplicon-sequencing
#7
Ayelet Di Segni, Tzipi Braun, Marina BenShoshan, Sarit Farage Barhom, Efrat Glick Saar, Karen Cesarkas, James E Squires, Nathan Keller, Yael Haberman
The human intestinal microbiome plays a central role in protecting cells from injury, in processing energy and nutrients, and in promoting immunity. Deviations from what is considered a healthy microbiota composition (dysbiosis) may impair vital functions leading to pathologic conditions. Recent and ongoing research efforts have been directed toward the characterization of associations between microbial composition and human health and disease. Advances in high-throughput sequencing technologies enable characterization of the gut microbial composition...
March 19, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29564582/novel-mutation-in-cecr1-leads-to-deficiency-of-ada2-with-associated-neutropenia
#8
Funda Erol Cipe, Cigdem Aydogmus, Nina K Serwas, Gonca Keskindemirci, Kaan Boztuğ
PURPOSE: Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2. METHODS: We reviewed medical records and clinical history of the patient. No mutations in other known neutropenia genes such as ELA, G6PC3, HAX1, AP3B1, LAMTOR2, VPS13B, VPS45, GFI1, JAGN1, or WAS could be detected...
April 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29330190/influence-of-pig-farming-on-the-human-s-nasal-microbiota-the-key-role-of-the-airborne-microbial-communities
#9
Julia G Kraemer, Alban Ramette, Suzanne Aebi, Anne Oppliger, Markus Hilty
It has been hypothesized that the environment can influence the composition of the nasal microbiota. However, the direct influence of pig farming on the anterior and posterior nasal microbiota is unknown. Using a cross-sectional design, pig farms (n=28) were visited in 2014-2015 and nasal swabs from 43 pig farmers and 56 pigs as well as 27 air samples taken in the vicinity of pig enclosure were collected. As controls, nasal swabs from 17 cow farmers and 26 non-animal exposed individuals were also included. Analyses of the microbiota were performed based on 16S rRNA amplicon sequencing and the DADA2 pipeline to define sequence variants (SVs)...
January 12, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29273180/-multiple-facets-of-ada2-deficiency-vasculitis-auto-inflammatory-disease-and-immunodeficiency-a-literature-review-of-135-cases-from-literature
#10
A Fayand, G Sarrabay, A Belot, V Hentgen, I Kone-Paut, G Grateau, I Melki, S Georgin-Lavialle
Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. Besides its role in the purine metabolism, it has been postulated that ADA2 may act as a growth factor for endothelial cells and in the differenciation of monocytes. Thus, deficiency of ADA2 would lead to endothelial damage and a skewing of monocytes into M1 pro-inflammatory macrophage, causing DADA2 manifestations...
April 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29271561/deficiency-of-ada2-mimicking-autoimmune-lymphoproliferative-syndrome-in-the-absence-of-livedo-reticularis-and-vasculitis
#11
Abdulrahman Alsultan, Enas Basher, Jubran Alqanatish, Reem Mohammed, Majid Alfadhel
Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission...
April 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29238339/comparing-the-healthy-nose-and-nasopharynx-microbiota-reveals-continuity-as-well-as-niche-specificity
#12
Ilke De Boeck, Stijn Wittouck, Sander Wuyts, Eline F M Oerlemans, Marianne F L van den Broek, Dieter Vandenheuvel, Olivier Vanderveken, Sarah Lebeer
To improve our understanding of upper respiratory tract (URT) diseases and the underlying microbial pathogenesis, a better characterization of the healthy URT microbiome is crucial. In this first large-scale study, we obtained more insight in the URT microbiome of healthy adults. Hereto, we collected paired nasal and nasopharyngeal swabs from 100 healthy participants in a citizen-science project. High-throughput 16S rRNA gene V4 amplicon sequencing was performed and samples were processed using the Divisive Amplicon Denoising Algorithm 2 (DADA2) algorithm...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29051624/autoinflammation-stem-cell-transplantation-for-dada2
#13
Joanna Collison
No abstract text is available yet for this article.
December 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29032440/vasculitis-and-vasculitis-like-manifestations-in-monogenic-autoinflammatory-syndromes
#14
REVIEW
Avinash Jain, Durga Prasanna Misra, Aman Sharma, Anupam Wakhlu, Vikas Agarwal, Vir Singh Negi
Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/28983775/deficiency-of-adenosine-deaminase-2-dada2-an-inherited-cause-of-polyarteritis-nodosa-and-a-mimic-of-other-systemic-rheumatologic-disorders
#15
REVIEW
Hasan Hashem, Susan J Kelly, Nancy J Ganson, Michael S Hershfield
PURPOSE OF REVIEW: A new autoinflammatory disease, deficiency of adenosine deaminase 2 (DADA2), caused by mutations in the CECR1 gene, was first reported in 2014. This review aims to update progress in defining, treating, and understanding this multi-faceted disorder. RECENT FINDINGS: DADA2 was first described in patients with systemic inflammation, mild immune deficiency, and vasculopathy manifested as recurrent stroke or polyarteritis nodosa (PAN). More than 125 patients have now been reported, and the phenotype has expanded to include children and adults presenting primarily with pure red cell aplasia (PRCA), or with antibody deficiency...
October 5, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28974505/hematopoietic-stem-cell-transplantation-rescues-the-hematological-immunological-and-vascular-phenotype-in-dada2
#16
MULTICENTER STUDY
Hasan Hashem, Ashish R Kumar, Ingo Müller, Florian Babor, Robbert Bredius, Jignesh Dalal, Amy P Hsu, Steven M Holland, Dennis D Hickstein, Stephen Jolles, Robert Krance, Ghadir Sasa, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Joris van Montfrans, Keith Wilson, Barbara Bosch, Leen Moens, Michael Hershfield, Isabelle Meyts
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency and bone marrow failure. Tumor necrosis factor-α blockade is the treatment of choice for the autoinflammation and vascular manifestations. Hematopoietic stem cell transplantation (HSCT) represents a potential definitive treatment...
December 14, 2017: Blood
https://www.readbyqxmd.com/read/28522451/ada2-deficiency-dada2-as-an-unrecognised-cause-of-early-onset-polyarteritis-nodosa-and-stroke-a-multicentre-national-study
#17
MULTICENTER STUDY
Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor...
October 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28516235/clinical-imaging-and-genotypical-features-of-three-deceased-and-five-surviving-cases-with-ada2-deficiency
#18
Sezgin Sahin, Amra Adrovic, Kenan Barut, Serdal Ugurlu, Eda Tahir Turanli, Huri Ozdogan, Ozgur Kasapcopur
Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/28493328/screening-of-181-patients-with-antibody-deficiency-for-deficiency-of-adenosine-deaminase-2-sheds-new-light-on-the-disease-in-adulthood
#19
Johanna Schepp, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, Klaus Warnatz, Jana Pachlopnik Schmid, Andrea Duppenthaler, Vassilios Lougaris, Ignacio Uriarte, Susan Kelly, Michael Hershfield, Bodo Grimbacher
OBJECTIVE: We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS: We screened for DADA2 in a cohort of 181 patients with antibody deficiency with or without vascular lesions using next-generation sequencing and targeted Sanger sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots...
August 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28444190/biological-aging-and-the-human-gut-microbiota
#20
Vincent J Maffei, Sangkyu Kim, Eugene Blanchard, Meng Luo, S Michal Jazwinski, Christopher M Taylor, David A Welsh
The human gastrointestinal microbiota plays a key homeostatic role in normal functioning of physiologic processes commonly undermined by aging. We used a previously validated 34-item frailty index (FI34) to identify changes in gut microbiota community structure associated with biological age of community-dwelling adults. Stool 16S rRNA cDNA libraries from 85 subjects ranging in age (43-79) and FI34 score (0-0.365) were deep sequenced, denoised, and clustered using DADA2. Subject biological age but not chronological age correlated with a decrease in stool microbial diversity...
October 12, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
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