Background: STAT3 gain-of-function (GOF) germline mutations have been recently described. A comprehensive overview of this early-onset multiorgan autoimmune and lymphoproliferative disease has not yet been compiled.
Objective:We have conducted a systematic review of published STAT3 GOF cases in order to describe clinical, diagnostic and therapeutic aspects of the disease.Methods: A systematic review including articles published before 10/10/2018 in Pubmed, WoS and CENTRAL databases was performed. We described cases of patients with STAT3 GOF germline mutations with genetic analysis and a concordant phenotype if functional analyses were not performed for the mutation.
Results:The search identified 18 publications describing 42 unique patients. Twenty-eight different mutations were described. Onset of disease was very early with an average age of 3 (0.5-5) years old. The most frequent manifestations were: autoimmune cytopenias (28/42), lymphoproliferation (27/42), enteropathy (24/42), interstitial lung disease (15/42), thyroiditis (13/42), diabetes (10/42), and post-natal growth failure (15/21). Immunodeficiency was not always a predominant feature. Most patients required significant immunosuppressive therapy.Five patients received hematopoietic stem cell transplantation, 4 died from complications. Improvement of symptoms was observed for 8 out of 9 patients that received targeted biotherapies.
This paper assesses the impact on household incomes of the COVID‐19 pandemic and governments’ policy responses in April 2020 in four large and severely hit EU countries: Belgium, Italy, Spain and the UK. We provide comparative evidence on the level of relative and absolute welfare resilience at the onset of the pandemic, by creating counterfactual scenarios using the European tax‐benefit model EUROMOD combined with COVID‐19‐related household surveys and timely labor market data. We find that income poverty increased in all countries due to the pandemic while inequality remained broadly the same. Differences in the impact of policies across countries arose from four main sources: the asymmetric dimension of the shock by country, the different protection offered by each tax‐benefit system, the diverse design of discretionary measures and differences in the household level circumstances and living arrangements of individuals at risk of income loss in each country.
When the 2008 crisis hit, social safety nets in Europe were not in the best of shape. This article examines what, if anything, governments did to adjust minimum income protection after two decades of relative neglect. In view of the hardship brought on by the crisis, this question is of importance in itself. In addition, there is a long-standing interest in the role crises play in re-shaping policies, possibly in a radical way. Building on purpose-collected data for twenty-four European countries, this article shows that many countries introduced supportive measures during the first years of the crisis, particularly in the form of additional benefit increases and more generous child benefits. Behavioural requirements imposed on minimum income recipients were not relaxed but in some countries activation efforts were intensified. Although the evidence shows that the crisis did trigger a response, there is little evidence for a structural change of course towards more adequate safety nets.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.