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COPA syndrome is a recently defined type I interferonopathy caused by heterozygous mutations in the gene COPA, encoding coatomer protein subunit alpha that is involved in intra-cellular transport of cargo proteins1. Although the pathogenesis is not fully understood, mutations in COPA were shown to cause an accumulation of STING at the Golgi2 where it is activated and leads to constitutive type I interferon signalling i.e. the core feature of type I interferonopathies.
ESID registry Working Party is inviting the ESID registry participants to take part in the "Malignancies in IEI" study latest by August 31st 2022.
The IDDA score has already been available as optional module (tab) in the level 1 for your own use at the initial and follow up patient entries and is designed for all IEI with immune dysregulation. Now, I am inviting your active contribution to a prospective study until end of 2023 (prolongation possible), aiming to implement a powerful tool for assessment and monitoring of disease activity and phenotype patterns!
Since the start of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, there has been rapid progress with understanding disease, clinical phenotypes and biology, improving treatment and implementing vaccination trials. Data is accumulating about the impact of COVID-19 for patients with Inborn Errors of Immunity (IEI). The purpose of this statement is to summarise our state of knowledge and set out ESID’s current guidance for professionals in the IEI community in Europe. We will update this statement as evidence emerges.
ESID is profoundly concerned about the grave repercussions of the conflict in Ukraine on PID community, healthcare and patients.
Together with IPOPI, INGID and J Project stakeholders, we have released a statement of solidarity and support to those impacted by the war in Ukraine.
Call for international contributions relating to IPEX patients infected with SARS-CoV-2.
The Hyper IgM Foundation and the Wiskott-Aldrich Foundation’s first-ever international
X-Linked Carrier Surveys are now available! We are excited to launch this survey project in collaboration with the Primary Immune Deficiency Treatment Consortium (PIDTC) and the Immune Deficiency Foundation (IDF).