Research Studies

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.

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

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.

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

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....

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.