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List of works by Helen J Lachmann

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

article

A European collaborative study of cyclophosphamide, bortezomib, and dexamethasone in upfront treatment of systemic AL amyloidosis

scientific article published on 18 May 2015

A baffling case of severe systemic inflammation. Putting the pieces together: genes, environment and triggers

article

A comparison of immunohistochemistry and mass spectrometry for determining the amyloid fibril protein from formalin-fixed biopsy tissue

scientific article published on 30 January 2015

A decade of anti-IL-1 therapy in CAPS - a spectrum of efficacy in this spectrum of diseases.

scientific article published on 28 September 2015

A good clonal response to chemotherapy in AL amyloidosis is associated with improved quality of life and function at 1 year

scientific article published on 01 March 2017

A matched comparison of cyclophosphamide, bortezomib and dexamethasone (CVD) versus risk-adapted cyclophosphamide, thalidomide and dexamethasone (CTD) in AL amyloidosis

scientific article published on 16 July 2014

A new era in the treatment of amyloidosis?

scientific article published in August 2013

A new staging system for cardiac transthyretin amyloidosis

scientific article published on 18 October 2017

A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred

scientific article

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

scientific article

A prospective study of nutritional status in immunoglobulin light chain amyloidosis

scientific article

A small population, randomised, placebo-controlled trial to determine the efficacy of anakinra in the treatment of pustular psoriasis: study protocol for the APRICOT trial

scientific article published on 29 August 2018

A study of implanted cardiac rhythm recorders in advanced cardiac AL amyloidosis

scientific article published on 29 December 2014

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

scientific article published on 18 October 2017

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases

scientific article

AA amyloidosis complicating the hereditary periodic fever syndromes

scientific article published on April 2013

AL amyloidosis associated with IgM paraproteinemia: clinical profile and treatment outcome

scientific article published on 15 August 2008

Abnormal N-terminal fragment of brain natriuretic peptide in patients with light chain amyloidosis without cardiac involvement at presentation is a risk factor for development of cardiac amyloidosis

scientific article published on 23 May 2011

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

scientific article published in February 2016

Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis

scientific article published on 7 December 2017

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

scientific article published on June 2004

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

scientific article published on 05 August 2011

Amyloidosis and the lung.

scientific article published on January 2006

An international registry on autoinflammatory diseases: the Eurofever experience

scientific article

An unusual cause of progressive heart failure

scientific article published in The Lancet

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K

scientific article published on 05 September 2010

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

scientific article published on September 2002

Auto-inflammatory syndromes and oral health

scientific article

Autoinflammation: When is familial Mediterranean fever 'severe'?

scientific article

Autoinflammatory Syndromes in Children

scientific article published on 29 January 2016

Autoinflammatory syndromes as causes of fever of unknown origin

scientific article published on June 2015

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

scientific article

Bone marrow findings correlate with clinical outcome in systemic AL amyloidosis patients

scientific article published on 01 April 2007

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

scientific article published on 18 March 2016

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

scientific article published on January 2014

CMR-Based Differentiation of AL and ATTR Cardiac Amyloidosis

scientific article published on 08 January 2014

CMR-Verified Regression of Cardiac AL Amyloid After Chemotherapy

scientific article published on 12 April 2017

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

scientific article

Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome

scientific article published on 29 July 2016

Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study

scientific article published on 07 June 2016

Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study.

scientific article

Cardiac Structural and Functional Consequences of Amyloid Deposition by Cardiac Magnetic Resonance and Echocardiography and Their Prognostic Roles

scientific article published on 18 April 2018

Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation

scientific article published on 17 December 2008

Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant

scientific article published on 11 October 2011

Carpal Tunnel Biopsy Identifying Transthyretin Amyloidosis

scientific article published on 26 May 2017

Case report: Response in proteinuria due to AA amyloidosis but not Felty's syndrome in a patient with rheumatoid arthritis treated with TNF-alpha blockade.

scientific article

Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre

scientific article

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

scientific article

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis

scientific article published on 24 October 2014

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

scientific article published on 19 February 2013

Clinical immunology review series: An approach to the patient with a periodic fever syndrome.

scientific article published on 07 July 2011

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

scientific article published on 27 July 2017

Clinical profile and treatment outcome of older (>75 years) patients with systemic AL amyloidosis

scientific article published on 20 August 2015

Clinical profile and treatment outcomes of immunoglobulin D associated AL amyloidosis

scientific article published on 18 June 2013

Comparison of Free Light Chain Assays:  Freelite and N Latex in Diagnosis, Monitoring, and Predicting Survival in Light Chain Amyloidosis

scientific article published on 27 June 2016

Complement receptor CD46 co-stimulates optimal human CD8 T cell effector function via fatty acid metabolism

scientific article published in Nature Communications

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

scientific article published on 12 August 2018

Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System

Cyclophosphamide, bortezomib, and dexamethasone therapy in AL amyloidosis is associated with high clonal response rates and prolonged progression-free survival

article

Development of the autoinflammatory disease damage index (ADDI).

scientific article published on 3 November 2016

Developments in the scientific and clinical understanding of autoinflammatory disorders

scientific article published on 30 January 2009

Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis

scientific article published in February 2018

Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis

scientific article published on 10 December 2008

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

scientific article

Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis

scientific article published on 7 March 2017

Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study

scientific article published on 21 May 2015

Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience.

scientific article published on 17 December 2013

Efficacy of bortezomib in systemic AL amyloidosis with relapsed/refractory clonal disease

scientific article

Emerging treatments for amyloidosis

scientific article

Eprodisate for the treatment of renal disease in AA amyloidosis.

scientific article

European Collaborative Study Defining Clinical Profile Outcomes and Novel Prognostic Criteria in Monoclonal Immunoglobulin M-Related Light Chain Amyloidosis

scientific article

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

scientific article published on 30 January 2015

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

scientific article published on 27 January 2015

Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd-Chiari syndrome and polyarteritis nodosa

scientific article published on 11 December 2010

Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families

scientific article

Guidelines on the diagnosis and investigation of AL amyloidosis.

scientific article

Guidelines on the management of AL amyloidosis

scientific article published on 10 October 2014

Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis.

scientific article published on 2 March 2008

Hereditary fibrinogen A -chain amyloidosis: clinical phenotype and role of liver transplantation

scientific article published on 01 May 2010

Hereditary lysozyme amyloidosis - phenotypic heterogeneity and the role of solid organ transplantation

scientific article published on 15 November 2011

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

scientific article

High prevalence of recurrent nocturnal desaturations in systemic AL amyloidosis: a cross-sectional pilot study.

scientific article

How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): preliminary results of the Eurofever Delphi survey

How experts on autoinflammatory diseases classify inherited periodic fevers: preliminary results of the Eurofever Delphi Survey

scientific article

How not to miss autoinflammatory diseases masquerading as urticaria.

scientific article published on 15 September 2012

Hypercalcemia in a patient with common variable immunodeficiency and renal granulomas

scientific article published in May 2005

IL-1 Inhibition in Cryopyrin-Associated Periodic Syndrome and Beyond: A Million Dollar Question about the Injection Schedule of Biotherapies

scientific article published on 30 August 2011

IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis

scientific article published on 17 September 2019

Immunoparesis defined by heavy+light chain suppression is a novel marker of long-term outcomes in cardiac AL amyloidosis.

scientific article

Improvement in renal cholesterol emboli syndrome after simvastatin

scientific article published in The Lancet

In silico validation of the Autoinflammatory Disease Damage Index

scholarly article by Nienke M ter Haar et al published 4 August 2018 in Annals of the Rheumatic Diseases

In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes

scientific article published on 13 April 2009

Inflammatory Bowel Disease and Systemic AA Amyloidosis

scientific article published on 31 January 2013

Infusion of pharmaceutical-grade natural human C-reactive protein is not proinflammatory in healthy adult human volunteers

scientific article

Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.

scientific article

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome ⬇️

scientific article

International experience of pregnancy outcomes in auto-inflammatory syndromes treated with Interleukin-1 inhibitors.

scientific article published on 28 September 2015

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.

scientific article published on 23 August 2017

Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome

scientific article published on 7 June 2012

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients.

scientific article

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience ⬇️

scientific article published on 31 October 2017

Lenalidomide and dexamethasone for systemic AL amyloidosis following prior treatment with thalidomide or bortezomib regimens

scientific article published on 13 June 2014

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

scientific article

Misdiagnosing renal amyloidosis as minimal change disease

scientific article published on 12 July 2014

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis

scientific article published on 01 June 2002

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome ⬇️

scientific article

Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome

scientific article published on 28 July 2015

Native T1 mapping in transthyretin amyloidosis

scientific article published on 08 January 2014

Natural history and outcome in systemic AA amyloidosis

scientific article

Natural history and outcome of light chain deposition disease

scientific article published on 21 September 2015

Natural history and outcomes in localised immunoglobulin light-chain amyloidosis: a long-term observational study

scientific article published on 6 May 2015

Neurologic manifestations of the cryopyrin-associated periodic syndrome

scientific article published in April 2010

Non-Hodgkin's lymphoma causing light-chain (AL) amyloidosis

scientific article published on March 2016

Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.

scientific article published on 22 April 2016

Novel combination chemotherapy for primary (AL) amyloidosis myeloma: clinical, laboratory and serum amyloid-P protein scan improvement.

scientific article

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

scientific article published on 4 August 2014

Organ Transplantation in Hereditary Apolipoprotein AI Amyloidosis

scientific article published on 21 August 2006

Outcome in Renal AL Amyloidosis After Chemotherapy

scientific article published on 10 January 2011

Outcome in systemic AL amyloidosis in relation to changes in concentration of circulating free immunoglobulin light chains following chemotherapy

scientific article

Outcome of autologous stem cell transplantation for AL amyloidosis in the UK

scientific article published on 05 July 2006

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

scientific article published on 15 November 2015

Periodic fever syndromes

scientific article published on 01 August 2017

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

scientific article

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

scientific article

Pitfalls in conducting prospective trials in stage III cardiac amyloidosis - experience from the REVEAL study

scientific article published on 6 October 2017

Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature.

scientific article published on March 2014

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

article

Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis

scientific article

Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid

scientific article published on 4 February 2017

Prolonged renal survival in light chain amyloidosis: speed and magnitude of light chain reduction is the crucial factor

scientific article published on 17 July 2017

Publisher Correction: The evaluation of monoclonal gammopathy of renal significance: a consensus report of the International Kidney and Monoclonal Gammopathy Research Group

scientific article published on 01 February 2019

Rapid and complete resolution of proteinuria due to renal amyloidosis in a patient with rheumatoid arthritis treated with infliximab

scientific article published on 01 October 2002

Rapid hematological responses improve outcomes in patients with very advanced (Stage IIIb) cardiac immunoglobulin light chain amyloidosis.

scientific article published on 5 January 2018

Real world outcomes of pomalidomide for treatment of relapsed light chain amyloidosis

scientific article published on 10 August 2018

Recommendations for the management of autoinflammatory diseases.

scientific article published on 24 June 2015

Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein

scientific article published on 19 November 2016

Renal Transplantation in Systemic Amyloidosis-Importance of Amyloid Fibril Type and Precursor Protein Abundance

article

Renal amyloidosis in intravenous drug users

scientific article published on 06 September 2006

Renal biopsy is a relatively safe procedure in cases of suspected amyloidosis and a valuable tool in excluding non-AL forms of the disease.

scientific article published in February 2010

Response to Letters Regarding Article, "Prognostic Value of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in Cardiac Amyloidosis".

scientific article published on March 2016

Role of implantable intracardiac defibrillators in patients with cardiac immunoglobulin light chain amyloidosis

scientific article

Safety and efficacy of empirical interleukin-1 inhibition using anakinra in AA amyloidosis of uncertain aetiology

scientific article published on 26 July 2017

Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis

scientific article published on 21 September 2006

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

scientific article published on 09 March 2013

Senile systemic amyloidosis: clinical features at presentation and outcome

scientific article

Sequential heart and autologous stem cell transplantation for systemic AL amyloidosis

scientific article published on 06 October 2005

Solid Organ Transplantation in AL Amyloidosis

scientific article published on 01 September 2010

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

scientific article published on February 2004

Stringent patient selection improves outcomes in systemic light-chain amyloidosis after autologous stem cell transplantation in the upfront and relapsed setting

scientific article published on 5 September 2014

Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation

scientific article published on 25 November 2008

Successful treatment of systemic AA amyloidosis associated with underlying Hodgkin lymphoma.

scientific article published on 16 May 2018

Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis

scientific article published on 8 January 2010

Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study ⬇️

scientific article published on December 9, 2011

Systemic amyloidosis

scientific article published on 17 February 2006

Systemic amyloidosis in England: an epidemiological study

scientific article

T helper 1 immunity requires complement-driven NLRP3 inflammasome activity in CD4⁺ T cells.

scientific article

T1 mapping and survival in systemic light-chain amyloidosis

scientific article

Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis

scientific article (publication date: 16 May 2002)

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

scientific article

The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients

scientific article published in July 2012

The emerging role of interleukin-1β in autoinflammatory diseases

scientific article published on February 2011

The emerging role of interleukin-1β in autoinflammatory diseases

scientific article published on October 2011

The evaluation of monoclonal gammopathy of renal significance: a consensus report of the International Kidney and Monoclonal Gammopathy Research Group

scientific article published on 01 January 2019

The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant, TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants.

scientific article

The pathogenesis and diagnosis of acute kidney injury in multiple myeloma

scientific article

The role of immunological assessment in patients with acute kidney injury and possible myeloma

scientific article published on September 2012

The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey

scientific article

Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis

scientific article published on 01 May 2002

Trapped without a diagnosis: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

scientific article

Treatment of IgM-associated immunoglobulin light-chain amyloidosis with rituximab-bendamustine

scientific article published on 20 June 2018

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

scientific article

Two types of amyloid in a single heart

scientific article published on November 2014

Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes

scientific article published on 21 August 2011

Use of canakinumab in the cryopyrin-associated periodic syndrome

scientific article

Utility and limitations of 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in systemic amyloidosis

scientific article published on 16 June 2014

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

scientific article

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA.

scientific article

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