E. Drewe

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

A signalome screening approach in the autoinflammatory disease TNF receptor associated periodic syndrome (TRAPS) highlights the anti‐inflammatory properties of drugs for repurposing

P. Tighe, G. Figueredo, O. Negm, 2017, Pharmacological research.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Clinically useful monoclonal antibodies in treatment.

E. Drewe, R. Powell, R J Powell, 2002, Journal of clinical pathology.

Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A.

P. Tighe, I. Todd, E. Drewe, 2006, Rheumatology.

Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2021 .

Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome

J. Meer, J. Drenth, A. Stalenhoef, 2004, Clinical pharmacology and therapeutics.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab.

P. Tighe, I. Todd, R. Powell, 2011, Arthritis and rheumatism.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome.

E. Drewe, A. Morgan, M. Huggins, 2004, Rheumatology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Smita Y. Patel, A. Gennery, F. Dhalla, 2020, Journal of Allergy and Clinical Immunology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS)

P. Tighe, O. Negm, H. Mannsperger, 2014, European journal of immunology.

Surveillance study on the tolerability and safety of Flebogamma® DIF (10% and 5% intravenous immunoglobulin) in adult and pediatric patients

M. Gompels, L. Alsina, E. Drewe, 2017, Pharmacology research & perspectives.

mouse bladder gene regulation Neurokinin 1 receptors and neprilysin modulation of

Wentian Li, Xiao-Jie Yan, N. Chiorazzi, 2013 .

The TNF Receptor-Associated Periodic Syndrome (TRAPS): Emerging Concepts of an Autoinflammatory Disorder

D. Kastner, R. Powell, E. Drewe, 2002, Medicine.

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders

E. López-Granados, J. Litzman, B. Ferry, 2010, Clinical and experimental immunology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS).

E. Drewe, R. Powell, E. McDermott, 2007, Rheumatology.

Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome.

E. Drewe, R. Powell, E. McDermott, 2000, The New England journal of medicine.

Etanercept AL amyloidosis

R. Powell, E. Drewe, 2001, The Lancet.

OR6-002 – Thromboembolism in autoinflammatory syndromes

E. Drewe, E. McDermott, R. Weldon, 2013, Pediatric Rheumatology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

A rare case of shock

R. Hall, E. Drewe, S. Jivan, 2003, Annals of the rheumatic diseases.

Internal standard-based analysis of microarray data2—Analysis of functional associations between HVE-genes

P. Tighe, N. Chiorazzi, J. Ryan, 2011, Nucleic acids research.

Patients with tumour necrosis factor (TNF) receptor‐associated periodic syndrome (TRAPS) are hypersensitive to Toll‐like receptor 9 stimulation

O. Negm, M. Hamed, L. Fairclough, 2019, Clinical and experimental immunology.

Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: comment on the articles by Hull et al and Dodé et al.

E. Drewe, P. Lanyon, R. Powell, 2003, Arthritis and rheumatism.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK

Smita Y. Patel, F. Dhalla, N. Verma, 2022, Clinical and experimental immunology.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS)

O. Negm, L. Fairclough, E. Drewe, 2014, European journal of immunology.

Primary Immunodeficiencies

E. Drewe, Richard J. Powell, Elizabeth Drewe, 2008, Pediatric Allergy, Asthma and Immunology.

A national survey of hereditary angioedema and acquired C1 inhibitor deficiency in the United Kingdom.

A. Worth, P. Arkwright, F. Shackley, 2023, The journal of allergy and clinical immunology. In practice.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.