Lista de obras - Anna Simon - Dominio Público Uruguay

A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever

artículo científico publicado en 2009

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

artículo científico publicado en 2003

A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.

artículo científico publicado en 2011

AL amyloidosis enhances development of amyloid A amyloidosis

article

ATP-Induced IL-1β Specific Secretion: True Under Stringent Conditions

artículo científico publicado en 2015

Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome

artículo científico publicado en 2009

An international registry on autoinflammatory diseases: the Eurofever experience

artículo científico publicado en 2012

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

artículo científico publicado en 2006

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

artículo científico publicado en 2011

Beneficial response to anakinra and thalidomide in Schnitzler's syndrome

artículo científico publicado en 2006

Cathepsin D activity protects against development of type AA amyloid fibrils

artículo científico publicado en 2009

Cholesterol metabolism and immunity.

artículo científico publicado en 2014

Circulating galectin-3 in infections and non-infectious inflammatory diseases.

artículo científico publicado en 2013

Comment on: Schnitzlers syndrome--exacerbation after anti-TNF treatment

artículo científico publicado en 2007

Complete remission of severe idiopathic cold urticaria on interleukin-1 receptor antagonist (anakinra)

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome.

artículo científico publicado en 2006

Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency

artículo científico publicado en 2017

Development of the autoinflammatory disease damage index (ADDI).

artículo científico publicado en 2016

Drosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity

artículo científico publicado en 2008

Dysregulation of innate immunity: hereditary periodic fever syndromes.

scientific article published on 11 December 2008

Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.

artículo científico publicado en 2005

Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response

artículo científico publicado en 2004

Effects of the Histone Deacetylase Inhibitor ITF2357 in Autoinflammatory Syndromes ⬇️

artículo científico publicado el 25 de enero de 2011

Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC4-related autoinflammatory disease, expansion of the phenotype

artículo científico publicado en 2016

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

artículo científico publicado en 2015

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

artículo científico publicado en 2015

Fever of unknown origin

artículo científico publicado en 2015

From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever

artículo científico publicado en 2001

Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever

artículo científico publicado en 2001

Hereditary periodic fever and reactive amyloidosis.

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Hot and hobbling with hives: Schnitzler syndrome

artículo científico publicado en 2006

How not to miss autoinflammatory diseases masquerading as urticaria.

artículo científico

Hyper-IgD syndrome or mevalonate kinase deficiency

artículo científico publicado en 2011

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

artículo científico publicado en 2015

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

artículo científico publicado en 2007

IL-1beta processing in host defense: beyond the inflammasomes

artículo científico publicado en 2010

Increased susceptibility of serum amyloid A 1.1 to degradation by MMP-1: potential explanation for higher risk of type AA amyloidosis.

artículo científico publicado en 2008

Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial

artículo científico publicado en 2001

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers

artículo científico publicado en 2013

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

artículo científico publicado en 2008

Lovastatin inhibits formation of AA amyloid

artículo científico publicado en 2008

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

artículo científico publicado en 2013

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

artículo científico publicado en 2015

Mast-cell interleukin-1β, neutrophil interleukin-17 and epidermal antimicrobial proteins in the neutrophilic urticarial dermatosis in Schnitzler's syndrome

artículo científico publicado en 2015

Mevalonate kinase deficiency nomenclature

artículo científico publicado en 2013

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

artículo científico publicado en 2004

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

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool

artículo científico publicado en 2001

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

artículo científico publicado en 2013

OR11-002 - Mutations in MVK cause non-syndromic RP.

artículo científico publicado en 2013

OR5-002 – In vitro studies in Schnitzler’s syndrome.

artículo científico publicado en 2013

OR7-002 – Pyrin 577 mutations in dominant autoinflammation.

artículo científico publicado en 2013

On-demand anakinra treatment is effective in mevalonate kinase deficiency

artículo científico publicado en 2011

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS.

artículo científico publicado en 2013

PW02-035 - A role for thermo-TRP channels in innate immunity?

artículo científico publicado en 2013

PW03-006 - IL-1-B inhibition in Schnitzler’s syndrome.

artículo científico publicado en 2013

PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome.

artículo científico publicado en 2013

Pattern recognition receptors in immune disorders affecting the skin.

artículo científico

Pattern recognition receptors in infectious skin diseases.

artículo científico

Peri- and Postoperative Treatment with the Interleukin-1 Receptor Antagonist Anakinra Is Safe in Patients Undergoing Renal Transplantation: Case Series and Review of the Literature

artículo científico publicado en 2017

Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective.

artículo científico publicado en 2016

Recommendations for the management of autoinflammatory diseases.

artículo científico

Recurrent febrile syndromes: what a rheumatologist needs to know

artículo científico publicado en 2009

Rheumatologic diseases as the cause of fever of unknown origin

artículo científico publicado en 2016

Schnitzler's syndrome: diagnosis, treatment, and follow-up

artículo científico

Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.

artículo científico publicado en 2005

Strong induction of AIM2 expression in human epidermis in acute and chronic inflammatory skin conditions.

artículo científico publicado en 2012

Successful canakinumab treatment identifies IL-1β as a pivotal mediator in Schnitzler syndrome.

artículo científico publicado en 2011

Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler's syndrome

artículo científico publicado en 2012

TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome

artículo científico publicado en 2014

Th17 cytokine deficiency in patients with Aspergillus skull base osteomyelitis

artículo científico publicado en 2015

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

artículo científico publicado en 2016

The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome

artículo científico publicado en 2016

The discriminative capacity of soluble Toll-like receptor (sTLR)2 and sTLR4 in inflammatory diseases.

artículo científico publicado en 2014

The role of interleukin-1 beta in the pathophysiology of Schnitzler's syndrome.

artículo científico publicado en 2015

Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases ⬇️

artículo científico publicado el 1 de agosto de 2012

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

artículo científico publicado en 2012

Two patients with recurrent fever and wine red discolouration of the eyelids.

artículo científico publicado en 2004

Unexplained recurrent fever: when is autoinflammation the explanation?

artículo científico

Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes

artículo científico publicado en 2013

Variable expression and treatment of PAPA syndrome

artículo científico publicado en 2011

Lista de obras de Anna Simon

A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.

AL amyloidosis enhances development of amyloid A amyloidosis

ATP-Induced IL-1β Specific Secretion: True Under Stringent Conditions

Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome

An international registry on autoinflammatory diseases: the Eurofever experience

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

Beneficial response to anakinra and thalidomide in Schnitzler's syndrome

Cathepsin D activity protects against development of type AA amyloid fibrils

Cholesterol metabolism and immunity.

Circulating galectin-3 in infections and non-infectious inflammatory diseases.

Comment on: Schnitzlers syndrome--exacerbation after anti-TNF treatment

Complete remission of severe idiopathic cold urticaria on interleukin-1 receptor antagonist (anakinra)

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

Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome.

Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency

Development of the autoinflammatory disease damage index (ADDI).

Drosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.

Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response

Effects of the Histone Deacetylase Inhibitor ITF2357 in Autoinflammatory Syndromes ⬇️

Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC4-related autoinflammatory disease, expansion of the phenotype

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Fever of unknown origin

From gene to disease; tumor necrosis factor receptor and a syndrome of familial periodic fever

Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever

Hereditary periodic fever and reactive amyloidosis.

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

Hot and hobbling with hives: Schnitzler syndrome

How not to miss autoinflammatory diseases masquerading as urticaria.

Hyper-IgD syndrome or mevalonate kinase deficiency

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

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

IL-1beta processing in host defense: beyond the inflammasomes

Increased susceptibility of serum amyloid A 1.1 to degradation by MMP-1: potential explanation for higher risk of type AA amyloidosis.

Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

Lovastatin inhibits formation of AA amyloid

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Mast-cell interleukin-1β, neutrophil interleukin-17 and epidermal antimicrobial proteins in the neutrophilic urticarial dermatosis in Schnitzler's syndrome

Mevalonate kinase deficiency nomenclature

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

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

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

OR11-002 - Mutations in MVK cause non-syndromic RP.

OR5-002 – In vitro studies in Schnitzler’s syndrome.

OR7-002 – Pyrin 577 mutations in dominant autoinflammation.

On-demand anakinra treatment is effective in mevalonate kinase deficiency

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS.

PW02-035 - A role for thermo-TRP channels in innate immunity?

PW03-006 - IL-1-B inhibition in Schnitzler’s syndrome.

PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome.

Pattern recognition receptors in immune disorders affecting the skin.

Pattern recognition receptors in infectious skin diseases.

Peri- and Postoperative Treatment with the Interleukin-1 Receptor Antagonist Anakinra Is Safe in Patients Undergoing Renal Transplantation: Case Series and Review of the Literature

Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective.

Recommendations for the management of autoinflammatory diseases.

Recurrent febrile syndromes: what a rheumatologist needs to know

Rheumatologic diseases as the cause of fever of unknown origin

Schnitzler's syndrome: diagnosis, treatment, and follow-up

Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.

Strong induction of AIM2 expression in human epidermis in acute and chronic inflammatory skin conditions.

Successful canakinumab treatment identifies IL-1β as a pivotal mediator in Schnitzler syndrome.

Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler's syndrome

TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome

Th17 cytokine deficiency in patients with Aspergillus skull base osteomyelitis

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome

The discriminative capacity of soluble Toll-like receptor (sTLR)2 and sTLR4 in inflammatory diseases.

The role of interleukin-1 beta in the pathophysiology of Schnitzler's syndrome.

Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases ⬇️

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review