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https://read.qxmd.com/read/30647181/variable-clinical-phenotypes-and-relation-of-interferon-signature-with-disease-activity-in-ada2-deficiency
#1
Antonella Insalaco, Gian Marco Moneta, Manuela Pardeo, Ivan Caiello, Virginia Messia, Claudia Bracaglia, Chiara Passarelli, Fabrizio De Benedetti
OBJECTIVE: An upregulation of type I interferon (IFN) stimulated genes [IFN score (IS)] was described in patients with adenosine deaminase 2 deficiency (DADA2). We describe the clinical course of 5 such patients and the role of IS as a marker of disease activity and severity. METHODS: Expression levels of IS were determined by quantitative real-time PCR. RESULTS: Five white patients were identified as carrying CECR1 mutations. The IS before treatment was elevated in 4 out of 5 patients and decreased after treatment...
January 15, 2019: Journal of Rheumatology
https://read.qxmd.com/read/30645994/adenosine-deaminase-two-and-immunoglobulin-m-accurately-differentiate-adult-sneddon-s-syndrome-of-unknown-cause
#2
Gustavo C Santo, Inês Baldeiras, Rita Guerreiro, Joana A Ribeiro, Rosário Cunha, Taryn Youngstein, Sira Nanthapisal, João Leitão, Carolina Fernandes, Francisco Caramelo, Maria do Rosário Almeida, José Brás, Isabel Santana
BACKGROUND: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), characterized by recurrent fevers and vascular pathologic features that included LR and stroke...
January 15, 2019: Cerebrovascular Diseases
https://read.qxmd.com/read/30642227/a-9-5-year-old-boy-with-recurrent-neurological-manifestations-and-severe-hypertension-treated-initially-for-polyarteritis-nodosa-was-subsequently-diagnosed-with-adenosine-deaminase-type-2-deficiency-dada2-which-responded-to-anti-tnf-%C3%AE
#3
Sezgin Sahin, Amra Adrovic, Kenan Barut, Selen Baran, Eda Tahir Turanli, Nur Canpolat, Osman Kizilkilic, Ozan Ozkaya, Ozgur Kasapcopur
A 9.5-year-old boy was referred with a 2-year history of recurrent fever, myalgia, abdominal pain and various neurological manifestations associated with increased acute phase reactants and IgG level. During the recent episode, severe hypertension and right-sided hemiparesis developed and angiography demonstrated irregularities and stenosis in renal and mesenteric artery branches. Although these manifestations were consistent with polyarteritis nodosa (PAN), the consanguinity of his parents, a cousin with similar clinical features and early disease onset led to suspicion of deficiency of adenosine deaminase type 2 (DADA2) diseases...
January 15, 2019: Paediatrics and International Child Health
https://read.qxmd.com/read/30565235/human-adenosine-deaminase-2-deficiency-a-multi-faceted-inborn-error-of-immunity
#4
REVIEW
Leen Moens, Michael Hershfield, Katrijn Arts, Ivona Aksentijevich, Isabelle Meyts
Human adenosine deaminase 1 deficiency was described in the 1970s to cause severe combined immunodeficiency. The residual adenosine deaminase activity in these patients was attributed to adenosine deaminase 2. Human adenosine deaminase type 2 deficiency (DADA2), due to biallelic deleterious mutations in the ADA2 gene, is the first described monogenic type of small- and medium-size vessel vasculitis. The phenotype of DADA2 also includes lymphoproliferation, cytopenia, and variable degrees of immunodeficiency...
January 2019: Immunological Reviews
https://read.qxmd.com/read/30560109/vasculitis-in-systemic-autoinflammatory-diseases
#5
REVIEW
Selcan Demir, Erdal Sag, Fatma Dedeoglu, Seza Ozen
Autoinflammatory diseases (AID) are diseases of the innate immune system, characterized by recurrent episodes of localized or systemic inflammation. Vasculitis may accompany AID. The causes of the association of vasculitis with monogenic AID are still debated. Among the monogenic AID, Familial Mediterranean Fever (FMF) is the most common. IgA-related vasculitis (IgAV) and Polyarteritis Nodosa (PAN) involving small and/or medium-sized vessels have an increased frequency among FMF patients. There are also case reports revealing vasculitic features in Cryopyrin-Associated Periodic Fever Syndrome (CAPS), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate Kinase Deficiency (MKD), also known as Hyper IgD syndrome (HIDS), Deficiency of IL-1 Receptor Antagonist (DIRA) and Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) patients...
2018: Frontiers in Pediatrics
https://read.qxmd.com/read/30535155/in-silico-and-experimental-evaluation-of-primer-sets-for-species-level-resolution-of-the-vaginal-microbiota-using-16s-ribosomal-rna-gene-sequencing
#6
William J Van Der Pol, Ranjit Kumar, Casey D Morrow, Eugene E Blanchard, Christopher M Taylor, David H Martin, Elliot J Lefkowitz, Christina A Muzny
Background: Identification of bacteria in human vaginal specimens is commonly performed using 16S ribosomal RNA (rRNA) gene sequences. However, studies utilize different 16S primer sets, sequence databases, and parameters for sample and database clustering. Our goal was to assess the ability of these methods to detect common species of vaginal bacteria. Methods: We performed an in silico analysis of 16S rRNA gene primer sets, targeting different hypervariable regions...
August 23, 2018: Journal of Infectious Diseases
https://read.qxmd.com/read/30526893/pediatric-forms-of-vasculitis
#7
REVIEW
Seza Özen, Hafize Emine Sönmez, Selcan Demir
Primary vasculitides that affect children are a challenging and complex group of disorders that may involve any system of the body and lead to significant morbidity and mortality. In recent years, there have been significant advances in the field of childhood vasculitides, including the development of classification criteria and outcome assessment. Although some forms of vasculitis occur in both children and adults, considerable differences exist between childhood and adult vasculitides; we review childhood vasculitides, thus highlighting their differences with the adult forms of the disease...
February 2018: Best Practice & Research. Clinical Rheumatology
https://read.qxmd.com/read/30418125/polyarteritis-nodosa-lessons-from-25-years-of-experience
#8
Hafize Emine Sönmez, Berkan Armağan, Gizem Ayan, Kenan Barut, Ezgi Deniz Batu, Abdulsamet Erden, Serdal Uğurlu, Yelda Bilginer, Özgur Kasapçopur, Ömer Karadağ, Sule Apras Bilgen, Huri Özdoğan, Seza Ozen
OBJECTIVES: Polyarteritis nodosa is a necrotising vasculitis of predominantly medium size vessels. The present study aimed to summarise the characteristics of PAN patients, and also analyse the trend of decreasing PAN frequency in the last 25 years. METHODS: PAN patients followed up between 1990 and 2015 were included. The demographics, clinical findings and outcomes were retrospectively evaluated. RESULTS: One hundred thirty-three patients, including 66 children, were enrolled in the study...
October 30, 2018: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/30416717/itsxpress-software-to-rapidly-trim-internally-transcribed-spacer-sequences-with-quality-scores-for-marker-gene-analysis
#9
Adam R Rivers, Kyle C Weber, Terrence G Gardner, Shuang Liu, Shalamar D Armstrong
The internally transcribed spacer (ITS) region between the small subunit ribosomal RNA gene and large subunit ribosomal RNA gene is a widely used phylogenetic marker for fungi and other taxa. The eukaryotic ITS contains the conserved 5.8S rRNA and is divided into the ITS1 and ITS2 hypervariable regions. These regions are variable in length and are amplified using primers complementary to the conserved regions of their flanking genes. Previous work has shown that removing the conserved regions results in more accurate taxonomic classification...
2018: F1000Research
https://read.qxmd.com/read/30406060/vasculopathy-immunodeficiency-and-bone-marrow-failure-the-intriguing-syndrome-caused-by-deficiency-of-adenosine-deaminase-2
#10
REVIEW
Pui Y Lee
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of systemic vasculopathy that often presents during early childhood. Linked to biallelic mutations in ADA2 (previously CECR1 ), DADA2 was initially described as a syndrome of recurrent fever, livedo racemosa, early-onset strokes, and peripheral vasculopathy that resembles polyarteritis nodosum. However, the wide spectrum of clinical findings and heterogeneity of disease, even among family members with identical mutations, is increasingly recognized...
2018: Frontiers in Pediatrics
https://read.qxmd.com/read/30333179/impact-of-dna-sequencing-and-analysis-methods-on-16s-rrna-gene-bacterial-community-analysis-of-dairy-products
#11
Zhengyao Xue, Mary E Kable, Maria L Marco
DNA sequencing and analysis methods were compared for 16S rRNA V4 PCR amplicon and genomic DNA (gDNA) mock communities encompassing nine bacterial species commonly found in milk and dairy products. The two communities comprised strain-specific DNA that was pooled before (gDNA) or after (PCR amplicon) the PCR step. The communities were sequenced on the Illumina MiSeq and Ion Torrent PGM platforms and then analyzed using the QIIME 1 (UCLUST) and Divisive Amplicon Denoising Algorithm 2 (DADA2) analysis pipelines with taxonomic comparisons to the Greengenes and Ribosomal Database Project (RDP) databases...
October 17, 2018: MSphere
https://read.qxmd.com/read/30185233/high-resolution-isr-amplicon-sequencing-reveals-personalized-oral-microbiome
#12
Chiranjit Mukherjee, Clifford J Beall, Ann L Griffen, Eugene J Leys
BACKGROUND: Sequencing of the 16S rRNA gene has been the standard for studying the composition of microbial communities. While it allows identification of bacteria at the level of species, this method does not usually provide sufficient information to resolve communities at the sub-species level. Species-level resolution is not adequate for studies of transmission or stability or for exploring subspecies variation in disease association. Strain level analysis using whole metagenome shotgun sequencing has significant limitations that can make it unsuitable for large-scale studies...
September 5, 2018: Microbiome
https://read.qxmd.com/read/30139808/ada2-deficiency-mimicking-idiopathic-multicentric-castleman-disease
#13
Erika Van Nieuwenhove, Stephanie Humblet-Baron, Lien Van Eyck, Lien De Somer, James Dooley, Thomas Tousseyn, Michael Hershfield, Adrian Liston, Carine Wouters
Multicentric Castleman disease (MCD) is a rare entity that, unlike unicentric Castleman disease, involves generalized polyclonal lymphoproliferation, systemic inflammation, and multiple-organ system failure resulting from proinflammatory hypercytokinemia, including, in particular, interleukin-6. A subset of MCD is caused by human herpesvirus-8 (HHV-8), although the etiology for HHV-8-negative, idiopathic MCD (iMCD) cases is unknown at present. Recently, a consensus was reached on the diagnostic criteria for iMCD to aid in diagnosis, recognize mimics, and initiate prompt treatment...
September 2018: Pediatrics
https://read.qxmd.com/read/30123705/denoising-the-denoisers-an-independent-evaluation-of-microbiome-sequence-error-correction-approaches
#14
Jacob T Nearing, Gavin M Douglas, André M Comeau, Morgan G I Langille
High-depth sequencing of universal marker genes such as the 16S rRNA gene is a common strategy to profile microbial communities. Traditionally, sequence reads are clustered into operational taxonomic units (OTUs) at a defined identity threshold to avoid sequencing errors generating spurious taxonomic units. However, there have been numerous bioinformatic packages recently released that attempt to correct sequencing errors to determine real biological sequences at single nucleotide resolution by generating amplicon sequence variants (ASVs)...
2018: PeerJ
https://read.qxmd.com/read/30099592/a-retrospective-study-comparing-the-phenotype-and-outcomes-of-patients-with-polyarteritis-nodosa-between-uk-and-turkish-cohorts
#15
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...
October 2018: Rheumatology International
https://read.qxmd.com/read/30047330/vasculitis-decade-in-review
#16
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://read.qxmd.com/read/29963054/deficiency-of-adenosine-deaminase-2-in-adult-siblings-many-years-of-a-misdiagnosed-disease-with-severe-consequences
#17
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://read.qxmd.com/read/29951947/deficiency-of-adenosine-deaminase-2-dada2-updates-on-the-phenotype-genetics-pathogenesis-and-treatment
#18
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://read.qxmd.com/read/29913178/deficiency-of-adenosine-deaminase-2-special-focus-on-central-nervous-system-imaging
#19
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://read.qxmd.com/read/29681619/a-decision-tree-for-the-genetic-diagnosis-of-deficiency-of-adenosine-deaminase-2-dada2-a-french-reference-centres-experience
#20
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
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