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https://www.readbyqxmd.com/read/29609200/il1rn-variation-influences-both-disease-susceptibility-and-response-to-human-recombinant-il-1ra-therapy-in-systemic-juvenile-idiopathic-arthritis
#1
Victoria L Arthur, Emily Shuldiner, Elaine F Remmers, Anne Hinks, Alexei A Grom, Dirk Foell, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Norman T Ilowite, Elizabeth D Mellins, Ricardo Russo, Claudio Len, Sheila Oliveira, Rae S M Yeung, Alan M Rosenberg, Lucy R Wedderburn, Jordi Anton, Johannes-Peter Haas, Angela Rösen-Wolff, Kirsten Minden, Ann Marie Szymanski, Wendy Thomson, Daniel L Kastner, Patricia Woo, Michael J Ombrello
OBJECTIVE: To determine whether systemic juvenile idiopathic arthritis (sJIA) susceptibility loci identified by candidate gene studies demonstrated association with sJIA in the largest study population assembled to date. METHODS: Single nucleotide polymorphisms (SNPs) from 11 previously reported sJIA risk loci were examined for association in 9 populations, including 770 sJIA cases and 6947 control subjects. The effect of sJIA-associated SNPs on gene expression was evaluated in silico in paired whole genome and RNA sequencing data from lymphoblastoid cell lines (LCL) of 373 European 1000 Genomes Project subjects...
April 2, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29562920/the-safety-of-live-attenuated-vaccines-in-patients-using-il-1-or-il-6-blockade-an-international-survey
#2
Jerold Jeyaratnam, Nienke M Ter Haar, Helen J Lachmann, Ozgur Kasapcopur, Amanda K Ombrello, Donato Rigante, Fatma Dedeoglu, Ezgi H Baris, Sebastiaan J Vastert, Nico M Wulffraat, Joost Frenkel
BACKGROUND: Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicenter survey aimed to evaluate the safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade. METHODS: We contacted physicians involved in the treatment of autoinflammatory diseases to investigate potential cases...
March 21, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29538758/using-genes-to-triangulate-the-pathophysiology-of-granulomatous-autoinflammatory-disease-nod2-plcg2-and-lacc1
#3
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 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 C gamma 2)...
March 12, 2018: International Immunology
https://www.readbyqxmd.com/read/29358286/aberrant-trna-processing-causes-an-autoinflammatory-syndrome-responsive-to-tnf-inhibitors
#4
Angeliki Giannelou, Hongying Wang, Qing Zhou, Yong Hwan Park, Mones S Abu-Asab, Kris Ylaya, Deborah L Stone, Anna Sediva, Rola Sleiman, Lucie Sramkova, Deepika Bhatla, Elisavet Serti, Wanxia Li Tsai, Dan Yang, Kevin Bishop, Blake Carrington, Wuhong Pei, Natalie Deuitch, Stephen Brooks, Jehad H Edwan, Sarita Joshi, Seraina Prader, Daniela Kaiser, William C Owen, Abdullah Al Sonbul, Yu Zhang, Julie E Niemela, Shawn M Burgess, Manfred Boehm, Barbara Rehermann, JaeJin Chae, Martha M Quezado, Amanda K Ombrello, Rebecca H Buckley, Alexi A Grom, Elaine F Remmers, Jana M Pachlopnik, Helen C Su, Gustavo Gutierrez-Cruz, Stephen M Hewitt, Raman Sood, Kimberly Risma, Katherine R Calvo, Sergio D Rosenzweig, Massimo Gadina, Markus Hafner, Hong-Wei Sun, Daniel L Kastner, Ivona Aksentijevich
OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1 , a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. METHODS: We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)...
April 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28544766/barriers-and-facilitators-of-mentoring-for-trainees-and-early-career-investigators-in-rheumatology-research-current-state-identification-of-needs-and-road-map-to-an-inter-institutional-adult-rheumatology-mentoring-program
#5
Alexis Ogdie, Jeffrey A Sparks, Sheila T Angeles-Han, Kathleen Bush, Flavia V Castelino, Amit Golding, Yihui Jiang, J Michelle Kahlenberg, Alfred H J Kim, Yvonne C Lee, Kirthi Machireddy, Michael J Ombrello, Ami A Shah, Zachary S Wallace, Peter A Nigrovic, Una E Makris
OBJECTIVE: To determine perceived barriers and facilitators to effective mentoring for early career rheumatology investigators and to develop a framework for an inter-institutional mentoring program. METHODS: Focus groups or interviews with rheumatology fellows, junior faculty, and mentors were conducted, audiorecorded, and transcribed. Content analysis was performed using NVivo software. Themes were grouped into categories (e.g., mentor-mentee relationship, barriers, and facilitators of a productive relationship)...
March 2018: Arthritis Care & Research
https://www.readbyqxmd.com/read/28544690/brief-report-deficiency-of-complement-1r-subcomponent-in-early-onset-systemic-lupus-erythematosus-the-role-of-disease-modifying-alleles-in-a-monogenic-disease
#6
Erkan Demirkaya, Qing Zhou, Carolyne K Smith, Michael J Ombrello, Natalie Deuitch, Wanxia L Tsai, Patrycja Hoffmann, Elaine F Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C Chandrasekharappa, Sarfaraz A Hasni, Amanda K Ombrello, Massimo Gadina, Daniel L Kastner, Mariana J Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of the disease. METHODS: We performed whole-exome sequencing and single-nucleotide polymorphism array genotyping in family members with and without SLE. Protein and gene expression, cytokine profile, neutrophil extracellular trap (NET) formation, and presence of low-density granulocytes were evaluated in patient primary cells and serum samples...
September 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28166214/dense-genotyping-of-immune-related-loci-implicates-host-responses-to-microbial-exposure-in-beh%C3%A3-et-s-disease-susceptibility
#7
Masaki Takeuchi, Nobuhisa Mizuki, Akira Meguro, Michael J Ombrello, Yohei Kirino, Colleen Satorius, Julie Le, Mary Blake, Burak Erer, Tatsukata Kawagoe, Duran Ustek, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Ozyazgan, Inês Sousa, Fereydoun Davatchi, Vânia Francisco, Farhad Shahram, Bahar Sadeghi Abdollahi, Abdolhadi Nadji, Niloofar Mojarad Shafiee, Fahmida Ghaderibarmi, Shigeaki Ohno, Atsuhisa Ueda, Yoshiaki Ishigatsubo, Massimo Gadina, Sofia A Oliveira, Ahmet Gül, Daniel L Kastner, Elaine F Remmers
We analyzed 1,900 Turkish Behçet's disease cases and 1,779 controls genotyped with the Immunochip. The most significantly associated SNP was rs1050502, a tag SNP for HLA-B*51. In the Turkish discovery set, we identified three new risk loci, IL1A-IL1B, IRF8, and CEBPB-PTPN1, with genome-wide significance (P < 5 × 10(-8)) by direct genotyping and ADO-EGR2 by imputation. We replicated the ADO-EGR2, IRF8, and CEBPB-PTPN1 loci by genotyping 969 Iranian cases and 826 controls. Imputed data in 608 Japanese cases and 737 controls further replicated ADO-EGR2 and IRF8, and meta-analysis additionally identified RIPK2 and LACC1...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28056736/case-control-association-study-of-autoimmunity-associated-variants-in-pdcd1-and-juvenile-idiopathic-arthritis
#8
Christina Tejeda, Alaine K Broadaway, Michael J Ombrello, Milton R Brown, Lori A Ponder, Mina Rohani Pichavant, Gabriel Wang, Sheila Angeles-Han, Aimee Hersh, John Bohnsack, Karen N Conneely, Michael Epstein, Sampath Prahalad
PURPOSE: Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA). METHODS: Four Single Nucleotide Polymorphisms (SNPS) in the PDCD1 gene were genotyped and analyzed: rs7421861, rs11568821, rs10204525, and rs7568402 in 834 cases and 855 controls of Northern European ancestry...
2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/27927641/genetic-architecture-distinguishes-systemic-juvenile-idiopathic-arthritis-from-other-forms-of-juvenile-idiopathic-arthritis-clinical-and-therapeutic-implications
#9
Michael J Ombrello, Victoria L Arthur, Elaine F Remmers, Anne Hinks, Ioanna Tachmazidou, Alexei A Grom, Dirk Foell, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Norman T Ilowite, Elizabeth D Mellins, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan M Rosenberg, Lucy R Wedderburn, Jordi Anton, Johannes-Peter Haas, Angela Rosen-Wolff, Kirsten Minden, Klaus Tenbrock, Erkan Demirkaya, Joanna Cobb, Elizabeth Baskin, Sara Signa, Emily Shuldiner, Richard H Duerr, Jean-Paul Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Daniel L Kastner, Patricia Woo, Wendy Thomson
OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However, approximately half of children with sJIA develop destructive, long-standing arthritis that appears similar to other forms of JIA...
May 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27811147/development-of-the-autoinflammatory-disease-damage-index-addi
#10
Nienke M Ter Haar, Kim V Annink, Sulaiman M Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S Barron, Susanne M Benseler, Paul A Brogan, Luca Cantarini, Marco Cattalini, Alexis-Virgil Cochino, Fabrizio De Benedetti, Fatma Dedeoglu, Adriana A De Jesus, Ornella Della Casa Alberighi, Erkan Demirkaya, Pavla Dolezalova, Karen L Durrant, Giovanna Fabio, Romina Gallizzi, Raphaela Goldbach-Mansky, Eric Hachulla, Veronique Hentgen, Troels Herlin, Michaël Hofer, Hal M Hoffman, Antonella Insalaco, Annette F Jansson, Tilmann Kallinich, Isabelle Koné-Paut, Anna Kozlova, Jasmin B Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Alberto Martini, Susan Nielsen, Irina Nikishina, Amanda K Ombrello, Seza Ozen, Efimia Papadopoulou-Alataki, Pierre Quartier, Donato Rigante, Ricardo Russo, Anna Simon, Maria Trachana, Yosef Uziel, Angelo Ravelli, Marco Gattorno, Joost Frenkel
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency...
May 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27708262/evaluation-of-kir3dl1-kir3ds1-polymorphism-in-beh%C3%A3-et-s-disease
#11
B Erer, M Takeuchi, D Ustek, I Tugal-Tutkun, E Seyahi, Y Özyazgan, J Duymaz-Tozkir, A Gül, D L Kastner, E F Remmers, M J Ombrello
The Behçet's disease (BD)-associated human leukocyte antigen (HLA) allele, HLA-B*51 (B*51), encodes a ligand for a pair of allelic killer immunoglobulin-like receptors (KIR) present on cytotoxic cells-KIR3DL1, which inhibits their cytotoxicity, and KIR3DS1, which activates their cytotoxic activity. We tested whether KIR-regulated mechanisms contribute to BD by testing for association of KIR3DL1/KIR3DS1 genotypes with disease in 1799 BD patients and 1710 healthy controls from Turkey, as well as in different subsets of individuals with HLA-type-defined ligands for the KIR3D receptors...
December 2016: Genes and Immunity
https://www.readbyqxmd.com/read/27559085/biallelic-hypomorphic-mutations-in-a-linear-deubiquitinase-define-otulipenia-an-early-onset-autoinflammatory-disease
#12
Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K Ombrello, Mary Blake, Tina Romeo, Elaine F Remmers, Jae Jin Chae, James C Mullikin, Ferhat Güzel, Joshua D Milner, Manfred Boehm, Sergio D Rosenzweig, Massimo Gadina, Steven B Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L Kastner, Ivona Aksentijevich
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients. Patients presented with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency...
September 6, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27217550/a-single-endoplasmic-reticulum-aminopeptidase-1-protein-allotype-is-a-strong-risk-factor-for-beh%C3%A3-et-s-disease-in-hla-b-51-carriers
#13
Masaki Takeuchi, Michael J Ombrello, Yohei Kirino, Burak Erer, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Özyazgan, Norman R Watts, Ahmet Gül, Daniel L Kastner, Elaine F Remmers
INTRODUCTION: Endoplasmic reticulum aminopeptidase-1 (ERAP1) protein is highly polymorphic with numerous missense amino acid variants. We sought to determine the naturally occurring ERAP1 protein allotypes and their contribution to Behçet's disease. METHODS: Genotypes of all reported missense ERAP1 gene variants with 1000 Genomes Project EUR superpopulation frequency >1% were determined in 1900 Behçet's disease cases and 1779 controls from Turkey. ERAP1 protein allotypes and their contributions to Behçet's disease risk were determined by haplotype identification and disease association analyses...
December 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26642243/loss-of-function-mutations-in-tnfaip3-leading-to-a20-haploinsufficiency-cause-an-early-onset-autoinflammatory-disease
#14
MULTICENTER STUDY
Qing Zhou, Hongying Wang, Daniella M Schwartz, Monique Stoffels, Yong Hwan Park, Yuan Zhang, Dan Yang, Erkan Demirkaya, Masaki Takeuchi, Wanxia Li Tsai, Jonathan J Lyons, Xiaomin Yu, Claudia Ouyang, Celeste Chen, David T Chin, Kristien Zaal, Settara C Chandrasekharappa, Eric P Hanson, Zhen Yu, James C Mullikin, Sarfaraz A Hasni, Ingrid E Wertz, Amanda K Ombrello, Deborah L Stone, Patrycja Hoffmann, Anne Jones, Beverly K Barham, Helen L Leavis, Annet van Royen-Kerkof, Cailin Sibley, Ezgi D Batu, Ahmet Gül, Richard M Siegel, Manfred Boehm, Joshua D Milner, Seza Ozen, Massimo Gadina, JaeJin Chae, Ronald M Laxer, Daniel L Kastner, Ivona Aksentijevich
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments...
January 2016: Nature Genetics
https://www.readbyqxmd.com/read/26598658/hla-drb1-11-and-variants-of-the-mhc-class-ii-locus-are-strong-risk-factors-for-systemic-juvenile-idiopathic-arthritis
#15
MULTICENTER STUDY
Michael J Ombrello, Elaine F Remmers, Ioanna Tachmazidou, Alexei Grom, Dirk Foell, Johannes-Peter Haas, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Elizabeth D Mellins, Norman T Ilowite, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan Rosenberg, Lucy R Wedderburn, Jordi Anton, Tobias Schwarz, Anne Hinks, Yelda Bilginer, Jane Park, Joanna Cobb, Colleen L Satorius, Buhm Han, Elizabeth Baskin, Sara Signa, Richard H Duerr, J P Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, Paul I W de Bakker, Soumya Raychaudhuri, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Wendy Thomson, Daniel L Kastner, Patricia Woo
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within the MHC locus on chromosome 6 influences sJIA susceptibility, we performed an association study of 982 children with sJIA and 8,010 healthy control subjects from nine countries. Using meta-analysis of directly observed and imputed SNP genotypes and imputed classic HLA types, we identified the MHC locus as a bona fide susceptibility locus with effects on sJIA risk that transcended geographically defined strata...
December 29, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26194548/distinct-transcriptome-profiles-differentiate-nonsteroidal-anti-inflammatory-drug-dependent-from-nonsteroidal-anti-inflammatory-drug-independent-food-induced-anaphylaxis
#16
Rosa Muñoz-Cano, Mariona Pascal, Joan Bartra, Cesar Picado, Antonio Valero, Do-Kyun Kim, Stephen Brooks, Michael Ombrello, Dean D Metcalfe, Juan Rivera, Ana Olivera
BACKGROUND: Lipid transfer protein (LTP), an abundant protein in fruits, vegetables, and nuts, is a common food allergen in Mediterranean areas causing diverse allergic reactions. Approximately 40% of food-related anaphylaxis induced by LTPs requires nonsteroidal anti-inflammatory drugs (NSAIDs) as a triggering cofactor. OBJECTIVE: We sought to better understand the determinants of NSAID-dependent and NSAID-independent LTP-induced anaphylaxis (LTP-A). METHODS: Selection of patients was based on a proved clinical history of NSAID-dependent or NSAID-independent anaphylaxis to LTPs, positive skin prick test response to LTPs, and serum LTP IgE...
January 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/26170422/the-effects-of-hydrodynamic-stretch-on-the-flame-propagation-enhancement-of-ethylene-by-addition-of-ozone
#17
Matthew Pinchak, Timothy Ombrello, Campbell Carter, Ephraim Gutmark, Viswanath Katta
The effect of O(3) on C(2)H(4)/synthetic-air flame propagation at sub-atmospheric pressure was investigated through detailed experiments and simulations. A Hencken burner provided an ideal platform to interrogate flame speed enhancement, producing a steady, laminar, nearly one-dimensional, minimally curved, weakly stretched, and nearly adiabatic flame that could be accurately compared with simulations. The experimental results showed enhancement of up to 7.5% in flame speed for 11 000 ppm of O(3) at stoichiometric conditions...
August 13, 2015: Philosophical Transactions. Series A, Mathematical, Physical, and Engineering Sciences
https://www.readbyqxmd.com/read/26077134/advances-in-the-genetically-complex-autoinflammatory-diseases
#18
REVIEW
Michael J Ombrello
Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity...
July 2015: Seminars in Immunopathology
https://www.readbyqxmd.com/read/26025129/single-amino-acid-charge-switch-defines-clinically-distinct-proline-serine-threonine-phosphatase-interacting-protein-1-pstpip1-associated-inflammatory-diseases
#19
Dirk Holzinger, Selina Kathleen Fassl, Wilco de Jager, Peter Lohse, Ute F Röhrig, Marco Gattorno, Alessia Omenetti, Sabrina Chiesa, Francesca Schena, Judith Austermann, Thomas Vogl, Douglas B Kuhns, Steven M Holland, Carlos Rodríguez-Gallego, Ricardo López-Almaraz, Juan I Arostegui, Elena Colino, Rosa Roldan, Smaragdi Fessatou, Bertrand Isidor, Sylvaine Poignant, Koichi Ito, Hans-Joerg Epple, Jonathan A Bernstein, Michael Jeng, Jennifer Frankovich, Geraldina Lionetti, Joseph A Church, Peck Y Ong, Mona LaPlant, Mario Abinun, Rod Skinner, Venetia Bigley, Ulrich J Sachs, Claas Hinze, Esther Hoppenreijs, Jan Ehrchen, Dirk Foell, Jae Jin Chae, Amanda Ombrello, Ivona Aksentijevich, Cord Sunderkoetter, Johannes Roth
BACKGROUND: Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin). OBJECTIVE: We sought to characterize the genetic cause and clinical spectrum of Hz/Hc. METHODS: Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene sequencing was performed in 14 patients with Hz/Hc, and their clinical phenotype was compared with that of 11 patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome...
November 2015: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/25988971/brief-report-cryopyrin-associated-periodic-syndrome-caused-by-a-myeloid-restricted-somatic-nlrp3-mutation
#20
Qing Zhou, Ivona Aksentijevich, Geryl M Wood, Avram D Walts, Patrycja Hoffmann, Elaine F Remmers, Daniel L Kastner, Amanda K Ombrello
OBJECTIVE: To identify the cause of disease in an adult patient presenting with recent-onset fevers, chills, urticaria, fatigue, and profound myalgia, who was found to be negative for cryopyrin-associated periodic syndrome (CAPS) NLRP3 mutations by conventional Sanger DNA sequencing. METHODS: We performed whole-exome sequencing and targeted deep sequencing using DNA from the patient's whole blood to identify a possible NLRP3 somatic mutation. We then screened for this mutation in subcloned NLRP3 amplicons from fibroblasts, buccal cells, granulocytes, negatively selected monocytes, and T and B lymphocytes and further confirmed the somatic mutation by targeted sequencing of exon 3...
September 2015: Arthritis & Rheumatology
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