The primary objectives of this study are to compare the genetic background of pediatric and adult CVID patients, including differences across defined age subgroups (<4, 4–7, 8–11, 12–17, 18–25, and >25 years) and also to evaluate whether monogenic CVID is more frequent in pediatric cases.
We would like to kindly invite you to participate in a collaborative effort to identify patients with ZNFX1 deficiency. We are collecting clinical, immunological and transplant data on patients with ZNFX1 deficiency. ZNFX1 deficiency has been described by independent groups, with initial reports emphasizing either susceptibility to mycobacterial disease or a multisystem inflammatory phenotype with viral susceptibility and immune dysregulation (e.g., Vavassori et al., J Allergy Clin Immunol 2021). Our aim is to capture the full range of presentations, treatments, and outcomes across centers.
Contribute to the STAT6GOF international consortium
As you likely know, STAT6 gain-of-function (STAT6GOF) disease is a relatively recently described inborn error of immunity that presents with severe allergic inflammation. ESID just launched a Collaborative Clinical Cohort Study on STAT6GOF disease.The goal of the study is to define the natural history and treatment outcomes of this new inborn error of immunity. Only few patients have been registered in the ESID registry so far, so this is a public call to see if others may have cases to contribute, and if you would like to join our consortium to combine resources.
An joint ESID-EBMT study to capture the data on RAS associated Lymphoproliferative Disorder (RALD) outcomes post HSCT. The group is interested in knowing more about the less well understood characteristics of this orphan disease and would like to extend this study to RALD patients who have not had a transplant and managed otherwise and we have contacted the ESID registry. This study, we feel, will significantly enhance our understanding of this disease better, to better delineate the sub-population who might benefit from HSCT and to look into appropriate conditioning/ donor source, to identify unique complications of the transplant and get a better idea on outcomes of such a transplant.
The study is currently in progress. The aim is to carry out a multicentre research project to evaluate the level of immune reconstitution achieved by patients with ADA-SCID on ERT while awaiting a more definitive treatment with HSCT or GT. Because GT is now recommended over HSCT if there is no matched sibling donor, but it is associated with a significantly longer waiting time, precise knowledge about timing of immune reconstitution, and when to consider treatment failure and plan an „urgent“ HSCT is important in the management of patients with ADA-SCID.
The study is currently in progress. The objectives of this study include: 1) Investigation of disease phenotypes in JAK1GOF disease 2) Investigation of specific treatments and treatment responses in
JAK1GOF disease
3) Creation of a platform for further functional testing of VUS in JAK1.
The study is currently in progress. The main objectives of this study are to test the feasibility of using patient L1 and IDDA score datasets for
training purposes of AI prediction models and to develop simple AI-based monitoring recommendation
guidance.
The study is currently in progress.
If your centre has cared for patients with MAGT1 mutations we invite you to participate and please reach out to Prof. Dr Safa Baris or Dr. Ezgi Yalcin Gungore. The collection of data will be until end of July 2025.
The study is currently in progress. If you have patients diagnosed with Coronin 1A deficiency and are interested in contributing to this study please contact Dr. Despina Moshous at Despina.moshous@inserm.fr and Dr. Reem Elfeky at reem.elfeky@gosh.nhs.uk.
The study is currently in progress. The objective of this study is to investigate the clinical and biological manifestations, treatment, and outcome of patients with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency due to NFKBIA pathogenic variants.
