E. Mcdermott

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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.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

T. Molina, A. Fischer, S. Nejentsev, 2016, The Journal of allergy and clinical immunology.

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Ian Todd, Christopher I Amos, Massimo Gadina, 1999, Cell.

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.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

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.

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

E. McDermott, J. Ravenscroft, I. H. Leach, 2010, European Journal of Pediatrics.

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.

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.

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy

P. Arkwright, S. Jolles, G. Arumugakani, 2018, Clinical and experimental immunology.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

Smita Y. Patel, A. Gennery, S. Marshall, 2014, Clinical and experimental immunology.

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

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Phenotype, penetrance, and treatment of 133 cytotoxic T‐lymphocyte antigen 4–insufficient subjects

O. Elemento, T. Giese, A. Schulz, 2018, The Journal of allergy and clinical immunology.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

A. Plebani, C. Pignata, S. Reda, 2021, Journal of Clinical Immunology.

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 .

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

G. Hitman, J. Yagüe, K. Minden, 2003, Arthritis and rheumatism.

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

P. Byrd, A. Taylor, E. Davies, 2008, Clinical and experimental immunology.

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

Ania, Eleanor, Dewhurst, 2018 .

Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family.

R. Powell, E. McDermott, D. Smillie, 1997, Mayo Clinic proceedings.

Incidence of ovarian failure in systemic lupus erythematosus after treatment with pulse cyclophosphamide.

R. Powell, E. McDermott, E. Mcdermott, 1996, Annals of the rheumatic diseases.

cyclophosphamide . erythematosus after treatment with pulse Incidence of ovarian failure in systemic lupus

R. Powell, E. McDermott, E. Mcdermott, 2022 .

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.

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.

The role of high-dose intravenous immunoglobulin in rheumatology.

E. McDermott, P. Vaitla, E. Mcdermott, 2010, Rheumatology.

Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line.

P. Tighe, I. Todd, R. Powell, 2009, Arthritis and rheumatism.

Cyclosporin in the treatment of Churg-Strauss syndrome

R. Powell, E. McDermott, E. Mcdermott, 1998, Annals of the rheumatic diseases.

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.

Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study

T. Molina, A. Fischer, S. Nejentsev, 2016 .