Moira Thomas
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View article: Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma Open
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 identifie…
View article: Chronic or recurrent Campylobacter enteritis in primary immunodeficiency: A UK national case-series and review of the literature
Chronic or recurrent Campylobacter enteritis in primary immunodeficiency: A UK national case-series and review of the literature Open
Clinical ImplicationsCampylobacter infection is an important diagnosis to consider in primary immunodeficiency patients with chronic or recurrent diarrhea, particularly in those with very low diagnostic immunoglobulin levels. Macrolides, a…
View article: No-biopsy strategy for coeliac disease is applicable in adult patients: a ‘real-world’ Scottish experience
No-biopsy strategy for coeliac disease is applicable in adult patients: a ‘real-world’ Scottish experience Open
Objective Emergency interim guidance from the British Society for Gastroenterology (BSG) states that a no-biopsy strategy is possible to diagnose coeliac disease (CD) in adults with elevated transglutaminase IgA antibody (TGA-IgA) levels. …
View article: Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK Open
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-C…
View article: Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom
Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom Open
Purpose To define the burden of morbidity and mortality arising from COVID-19 in individuals with primary (PID) and secondary immunodeficiency (SID) in the United Kingdom. Methods In March 2020, the United Kingdom Primary Immunodeficiency …
View article: Whole genome sequencing of a sporadic primary immunodeficiency cohort
Whole genome sequencing of a sporadic primary immunodeficiency cohort Open
Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity and cancer, and it presents major diagnostic and therapeutic challenges. Although the most severe forms present in early child…
View article: GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies
GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies Open
Primary Immune disorders affect 15,000 new patients every year in Europe. Genetic tests are usually performed on a single or very limited number of genes leaving the majority of patients without a genetic diagnosis. We designed, optimised …
View article: Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans Open
We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells.