Sai Murng

National Audit of Long‐Term Real‐World Outcomes of Berotralstat Use in UK Patients With Hereditary Angioedema

Haggar Elbashir, Anthony D. Dorr, Manisha Ahuja, Lorena Lorenzo et autres

The data that support the findings of this study are available from the corresponding author upon reasonable request. Appendix S1: all70086-sup-0001-AppendixS1.docx. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any …

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Chronic norovirus infection in immunodeficiency: A UK national case series

Alexandros Grammatikos, Anisha Mangtani, Mark Ponsford, Stephen Jolles et autres

Norovirus is a highly contagious virus that causes gastroenteritis. In healthy individuals, infection typically resolves in a few days, but certain populations are at higher risk of chronicity, including those with immunodeficiency. Chronic norovirus infection (CNI) can be debilitating in these patients, …

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A multi-centre UK-based survey on angioedema secondary to acquired C1 inhibitor deficiency

Hadeil Morsi, Aarnoud Huissoon, Alexandros Grammatikos, Andrew Whyte et autres

BACKGROUND: Acquired angioedema due to C1-inhibitor deficiency (AAE-C1-INH) is very rare compared to its prototype, hereditary angioedema. An updated characterization of the AAE-C1-INH cohort in the UK is required to inform management. OBJECTIVES: To describe the disease burden of AAE-C1-INH, long-term prophylaxis …

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

Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins, Adriana S. Albuquerque et autres

The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator of Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified a novel heterozygous germline mutation STAT6 c.1255G > C, …

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A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom

Patrick Yong, Tanya Coulter, Tariq El‐Shanawany, Tomaz Garcez et autres

BACKGROUND: Detailed demographic data on people with hereditary angioedema (HAE) and acquired C1 inhibitor deficiency in the United Kingdom are relatively limited. Better demographic data would be beneficial in planning service provision, identifying areas of improvement, and improving care. OBJECTIVE: To obtain …

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Practical challenges for functional validation of STAT1 gain of function genetic variants

Adriana S. Albuquerque, Jesmeen Maimaris, Alexander J McKenna, Jonathan Lambourne et autres

Wider application of next generation genetic sequencing (NGS) has significantly improved diagnosis for patients with inborn errors of immunity (IEI) and is increasingly a routine part of clinical practice [1, 2]. However, functional validation of genetic variants of unknown significance (VUS) remains …

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Berotralstat for the prophylaxis of hereditary angioedema—Real‐world evidence data from the United Kingdom

Manisha Ahuja, Anthony D. Dorr, Eniola Bode, Anne Boulton et autres

AppendixS1 AppendixS2 Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Lanadelumab for the prevention of hereditary angioedema attacks: A real‐world UK audit

Anthony D. Dorr, Charu Chopra, Tanya Coulter, John Dempster et autres

Appendix S1: Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Lanadelumab for the prevention of hereditary angioedema attacks: A real-world UK audit.

Anthony D. Dorr, Charu Chopra, Tanya Coulter, John Dempster et autres

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Berotralstat for the prophylaxis of hereditary angioedema -- Outcomes in the United Kingdom

Manisha Ahuja, Anthony D. Dorr, Eniola Bode, Anne Boulton et autres

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A Multicentre UK-Based Audit on Acquired C1 Inhibitor Deficiency 2021

Hadeil Morsi, Alexandros Grammatikos, Cathal Steele, Catherine Stroud et autres

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

Adrian Shields, Ariharan Anantharachagan, Gururaj Arumugakani, Kenneth F. Baker et autres

In March 2020, the United Kingdom Primary Immunodeficiency Network (UKPIN) established a registry of cases to collate the outcomes of individuals with PID and SID following SARS-CoV-2 infection and treatment. A total of 310 cases of SARS-CoV-2 infection in individuals with PID …

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