Research Studies

Information on ongoing studies using the ESID Registry Database.

For completed studies please refer to the list of Registry publications.

If you want to propose a study to the ESID Registry, please use the following Research Proposal Form:

ESID _Research proposal form Jan26.2023

ESID Registry Study Project Fees | Reimbursement Scheme as of August 2023

Please be aware that there will be a calculation of costs to be reimbursed by the study center to ESID for non-routine additional technical and administrative work according to a template that will be subject to adaptation and changes without prior notice.

Deciphering inflammatory phenotypes prior to and under targeted therapies in JAK1GOF disease

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.

AI in regsitry work for IEI/PID

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.

Call for participation: Understanding clinical and immunological features of MAGT1 deficiency in patients with X-linked immunodeficiency

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.

Genotypic-phenotypic spectrum and outcome of haematopoietic stem cell transplant (HSCT) in patients with Coronin-1A deficiency

The study is currently in progress. The main objective of this study is to significantly improve the understanding of Coronin 1A deficiency by examining the largest possible cohort of affected individuals. In this way, it intends to more precisely define the broad clinical spectrum of this rare immunodeficiency, identifying the full range of symptoms and different degrees of severity observed in patients....

Clinical spectrum and management of patients with autosomal dominant anhidrotic ectodermal dysplasia and immunodeficiency caused by NFKBIA heterozygous variants. A joint ESID/EBMT IEWP study

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.

IL2Rα and IL2Rβ Deficiencies - Clinical Phenotype and HSCT Outcome, a joint ESID/EBMT IEWP study

The study is currently in progress. The objectives of this study include: 1) Describe the clinical and immunological phenotype in patients with IL2RA and IL2RB deficiencies 2) Describe the outcome of HSCT in these two disorders 3) Explore the impact of CMV serostatus and CMV disease at HSCT on outcome 4) Explore the impact of donor chimerism on immunophenotype and disease activity post-HSCT

Call for participation: MOESIN Deficiency

To assess the highly variable clinical consequences and treatments of Moesin deficiency, collect real world evidence about this ultra rare disease, and ultimately to improve patient management, Isabelle André, Jean-Sébastien Diana and coworkers in Paris are performing an international registry study (XMAID international registry NCT06278337). If you care for a MOESIN-deficient patient and want to participate, please contact Alexandrine.garrigue@inserm.fr to participate in the study. Inclusion of new patients is possible till the end of 2024.

Retrospective study on clinical manifestation, treatment, and outcome in FHL2 and FHL3

Familial hemophagocytic lymphohistiocytoses (FHL) are a group of genetic disorders of cytotoxicity, which predispose to the life-threatening syndrome of HLH. FHL2 (Perforin deficiency) and FHL3 (MUNC13-4 deficiency) are the most frequent forms of the disease. Current therapies include control of the aberrant immune activation by immune-/chemotherapy followed by HSCT still show about 20 to 40% overall mortality. A collaborative project between ESID, Histiocyte Society and inborn errors working party of EBMT MORE HERE How can I report a patient for the FHL2/3 study? Click Here

HLH Study (Registry in cooperation with the Histiocyte Society)

The primary goal of the HLH Registry Study in Cooperation with the Hstiocyte Sciety is to collect data relevant for assessment of feasibility and design of future interventional studies on the treatment of HLH. This requires a detailed analysis of the target patient population treated by centers potentially participating in such studies. Another important goal of implementing a HLH Registry is to improve the network of physicians collaborating on HLH and to prepare the infrastructure for a future trial. Implementing routines for patient identification (and central notification), diagnostic algorithms and the use of a GCP database that is fully adapted to running interventional clinical trials are important milestones in facilitating the execution of a clinical trial....

APDS Study (APDS Registry)

The first ESID Registry level 3 project.

Currently recruiting! Publications from this study have been released in 2018 and 2023!

Please click here to to download and view the third newsletter for the APDS registry

Please refer to the ESID Registry Publication list for further details.

1 2

Chairperson WP Registry (2022-2026)

Prof. Markus G. Seidel

Phone: +43 316 385 80215

E-mail: registry@esid.org