ESID

Gergana Georgieva

ESID Diagnostic Workshop 2025 – Report

We are delighted to share that the ESID Diagnostic Workshop 2025, held from 15th to 17th September in Freiburg, Germany, was a great success.

The 2025 edition of the ESID Diagnostic Workshop was organized by the Chair of the ESID Education Working Party, Clara Franco Jarava, and Professor Klaus Warnatz from the University of Freiburg, Germany.

ZNFX1 – Collaborative Study

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.

STAT6GOF – Clinical cohort Study

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.

HSCT indications and outcome of HSCT for Ras-Associated Autoimmune Leukoproliferative Disorder (RALD), a joint ESID/ EBMT IEWP study 

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.