The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases

Launched by MEYER CHILDREN'S HOSPITAL IRCCS · Feb 27, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how certain immune system problems, known as Inborn Errors of Immunity (IEI), relate to blood disorders in young patients. Researchers want to better understand how these immune defects can lead to various hematologic diseases, like autoimmune cytopenias, lymphoma, and bone marrow failure. By examining nearly 700 children under the age of 25 with these conditions, the study aims to discover hidden immune issues that may not have been recognized before. Participants will undergo a series of tests to check their immune function and genetic makeup, which could help identify new treatment options or improve existing ones.

To be eligible for this study, patients must be under 25 years old and have a diagnosed blood disorder like autoimmune cytopenias or lymphoma. Those with certain types of lymphoma related to HIV or transplants, or with self-healing cases of autoimmune cytopenia, won't be included. Throughout the study, patient advocacy organizations will provide support and information, helping families understand their conditions and make informed decisions about treatment. This research not only aims to improve patient care but also hopes to enhance the overall quality of life for those involved.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Patients age \< 25 years
• • 2. Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS) (see details below)
• • 3. Signed Informed Consent
• Exclusion Criteria:
• • 1. Patients with Lymphoma secondary to HIV or transplant
• • 2. Patient with self-resolving or post-infective AICs