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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.

Currently recruiting!

Project description

GAIN is a network of physicians and scientists interested on collecting data on patients with multiorgan autoimmunity with and without immunodeficiency. The network started in Germany, this is why the dataset is called German multi-organ Auto Immunity Network (GAIN, https://www.research4rare.de/forschungsverbuende/gain/ )

GAIN website: www.g-a-i-n.de

Publications from this study have been released in 2023!

Please refer to the ESID Registry Publication list for further details

An ESID Registry level 3 project.

If you treat a SOCS1 patient at your center and want to include her/him into the registry please send an email to cci.socs1@list.uniklinik-freiburg.de.

We then will provide individual information to you regarding the next steps.

Already > 3,200 level 1 + level 2 forms completed for the unPAD study

All of you who have not yet started your participation, please reconsider and join this very large cohort of hypogammaglobulinemia patients (unclassified PAD + CVID as controls).