Lista de obras -

30 A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

scholarly article by Damini Jawaheer et al published April 2001 in American Journal of Human Genetics

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

artículo científico publicado en 2010

A guiding map for inflammation

artículo científico publicado en 2017

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

artículo científico publicado en 2012

A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.

artículo científico publicado en 2008

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis

artículo científico publicado en 2004

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs

artículo científico publicado en 2011

A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome

artículo científico publicado en 2008

A recurrent rash with fever and arthropathy

artículo científico publicado en 2006

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers

artículo científico publicado en 2016

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

artículo científico publicado en 2015

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

artículo científico publicado en 2018

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

artículo científico publicado en 2015

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

artículo científico publicado en 2006

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

scientific journal article

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

artículo científico publicado en 2016

Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy

artículo científico publicado en 2009

Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever

scientific article published on 01 July 2003

American College of Rheumatology Basic Research Conference: Genetics and genomics in rheumatic disease

artículo científico publicado en 2002

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

artículo científico publicado en 2009

Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

artículo científico publicado en 2014

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Association of STAT4 with rheumatoid arthritis in the Korean population

artículo científico publicado en 2007

Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons

artículo científico publicado en 2011

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses

artículo científico publicado en 2009

Autoinflammatory disease reloaded: a clinical perspective

artículo científico publicado en 2010

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

artículo científico publicado en 2014

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

artículo científico publicado en 2015

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

artículo científico publicado en 2017

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans

article

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

artículo científico publicado en 2011

CATERPILLERs, pyrin and hereditary immunological disorders

artículo científico publicado en 2006

CRITICAL SIGNALING EVENTS IN THE MECHANOACTIVATION OF HUMAN MAST CELLS VIA P.C492Y-ADGRE2

artículo científico publicado en 2020

Challenges and opportunities for systemic amyloidosis research. Summary of an Advisory Workshop Sponsored by the NIH Office of Rare Diseases, Bethesda, Maryland, June 20, 2006

Characterization and analysis of the proximal Janus kinase 3 promoter

scientific article published on 01 June 2003

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database

artículo científico publicado en 2017

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

artículo científico publicado en 2010

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

artículo científico publicado en 2012

Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis

artículo científico publicado en 2020

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

scientific article published on 14 September 2008

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

artículo científico publicado en 2010

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

artículo científico publicado en 2015

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

artículo científico publicado en 2018

Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice

artículo científico publicado en 2012

Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3

artículo científico publicado en 1998

Control of the innate immune response by the mevalonate pathway.

artículo científico publicado en 2016

Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

artículo científico publicado en 2017

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

artículo científico publicado en 2007

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

artículo científico publicado en 2007

Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data

artículo científico publicado en 2009

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

artículo científico publicado en 2002

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

scientific article published on 08 July 2020

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

scientific article published on 23 April 2019

Deficiency of adenosine deaminase 2: Is it an elephant after all?

scientific article published on 27 April 2020

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

artículo científico publicado en 2017

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

scientific article published on 21 August 2018

EULAR recommendations for the management of familial Mediterranean fever

artículo científico publicado en 2016

Early-onset stroke and vasculopathy associated with mutations in ADA2

artículo científico publicado en 2014

Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses

artículo científico publicado en 2011

Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study

artículo científico publicado en 2012

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics

artículo científico publicado en 2015

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

artículo científico publicado en 2009

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

artículo científico publicado en 2005

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

artículo científico publicado en 2003

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression

artículo científico publicado en 2015

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

artículo científico publicado en 2011

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

scientific article published on 21 August 2020

Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations

artículo científico publicado en 2009

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

artículo científico publicado en 2009

Genetics of monogenic autoinflammatory diseases: past successes, future challenges

artículo científico publicado en 2011

Genetics, genomics, and their relevance to pathology and therapy

artículo científico publicado en 2014

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

scientific journal article

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

artículo científico publicado en 2010

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

artículo científico publicado en 2010

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases

artículo científico publicado en 2017

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

scientific article published on 23 December 2019

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

artículo científico publicado en 2015

HOIL and water: the two faces of HOIL-1 deficiency

artículo científico publicado en 2012

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

artículo científico publicado en 2004

Hepatic Transcriptome Analysis of Hepatitis C Virus Infection in Chimpanzees Defines Unique Gene Expression Patterns Associated with Viral Clearance

artículo científico publicado en 2008

Hereditary periodic fever

scientific article published on 01 May 2002

Hereditary periodic fever syndromes

artículo científico publicado en 2005

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

artículo científico publicado en 2009

Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts.

artículo científico publicado en 2003

Hypophosphatasia and the risk of atypical femur fractures: a case-control study

artículo científico publicado en 2016

IL-1 blockade in Schnitzler syndrome: Ex vivo findings correlate with clinical remission

artículo científico publicado en 2007

IL1RN Variation Influences both Disease Susceptibility and Response to Human Recombinant IL-1RA Therapy in Systemic Juvenile Idiopathic Arthritis.

artículo científico publicado en 2018

Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations

artículo científico publicado en 2014

Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome

artículo científico publicado en 2010

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

scientific article published on 04 June 2009

Lighting the fires within: the cell biology of autoinflammatory diseases

artículo científico publicado en 2012

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

artículo científico publicado en 2021

Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever

artículo científico publicado en 2004

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

artículo científico publicado en 2015

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

artículo científico publicado en 2012

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS) ⬇️

artículo científico publicado el 31 de enero de 2011

Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction

artículo científico publicado en 2002

Mutational analysis in neonatal-onset multisystem inflammatory disease: Comment on the articles by Frenkel et al and Saito et al

article

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells

artículo científico publicado en 2012

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

artículo científico publicado en 2017

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

artículo científico publicado en 2006

Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease

artículo científico publicado en 2018

Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome.

artículo científico publicado en 2005

Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed

artículo científico publicado en 2016

PFAPA: a single phenotype with genetic heterogeneity.

artículo científico publicado en 2012

PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis

artículo científico publicado en 2005

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade

artículo científico publicado en 2011

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages

artículo científico publicado en 2015

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever

artículo científico publicado en 2019

Pyrin Modulates the Intracellular Distribution of PSTPIP1.

artículo científico publicado en 2009

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway ⬇️

artículo científico publicado el 31 de octubre de 2003

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS

artículo científico publicado en 2016

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

artículo científico publicado en 2009

Recent advances in the molecular pathogenesis of hereditary recurrent fevers

artículo científico publicado en 2006

Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles

artículo científico publicado en 2005

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

artículo científico publicado en 2005

Reply to Stoimenis et al.

artículo científico publicado en 2015

Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial.

artículo científico publicado en 2012

STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus

artículo científico publicado en 2007

STAT4: genetics, mechanisms, and implications for autoimmunity

artículo científico publicado en 2008

Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families

artículo científico publicado en 2003

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

article by Hirotsugu Oda et al published 2019 in Frontiers in Immunology

Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus

artículo científico publicado en 2008

Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus

artículo científico publicado en 2008

Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

artículo científico publicado en 2012

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

artículo científico publicado en 2007

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

artículo científico publicado en 2014

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

artículo científico publicado en 2003

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

artículo científico publicado en 2013

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

artículo científico publicado en 2006

The Pyrin Inflammasome in Health and Disease

scientific article published on 07 August 2019

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder

artículo científico publicado en 2002

The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome

artículo científico publicado en 2016

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

artículo científico publicado en 2012

The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control series

artículo científico publicado en 2009

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

artículo científico publicado en 2007

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

artículo científico publicado en 2003

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment

artículo científico publicado en 2008

The functional −169T→C single-nucleotide polymorphism inFCRL3 is not associated with rheumatoid arthritis in white North Americans

scholarly article by Xiaolan Hu et al published 2006 in Arthritis and Rheumatism

The hereditary autoinflammatory syndromes

artículo científico publicado en 2007

The immunogenetics of Behçet's disease: A comprehensive review

artículo científico publicado en 2015

The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis

artículo científico publicado en 2008

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

artículo científico publicado en 2017

Treatment Strategies for Deficiency of Adenosine Deaminase 2

artículo científico publicado en 2019

Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: comment on the article by Matsubara et al

scientific article published on 01 June 2007

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

scientific article published on 25 November 2019

Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

artículo científico publicado en 2010

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

artículo científico publicado en 2016

When less is more: primary immunodeficiency with an autoinflammatory kick

artículo científico publicado en 2014

Lista de obras de

30

A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

A guiding map for inflammation

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs

A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome

A recurrent rash with fever and arthropathy

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy

Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever

American College of Rheumatology Basic Research Conference: Genetics and genomics in rheumatic disease

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

Association of STAT4 with rheumatoid arthritis in the Korean population

Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses

Autoinflammatory disease reloaded: a clinical perspective

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

CATERPILLERs, pyrin and hereditary immunological disorders

CRITICAL SIGNALING EVENTS IN THE MECHANOACTIVATION OF HUMAN MAST CELLS VIA P.C492Y-ADGRE2

Challenges and opportunities for systemic amyloidosis research. Summary of an Advisory Workshop Sponsored by the NIH Office of Rare Diseases, Bethesda, Maryland, June 20, 2006

Characterization and analysis of the proximal Janus kinase 3 promoter

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice

Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3

Control of the innate immune response by the mevalonate pathway.

Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

Deficiency of adenosine deaminase 2: Is it an elephant after all?

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

EULAR recommendations for the management of familial Mediterranean fever

Early-onset stroke and vasculopathy associated with mutations in ADA2

Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses

Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

Genetics of monogenic autoinflammatory diseases: past successes, future challenges

Genetics, genomics, and their relevance to pathology and therapy

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci