The interplay between Inborn Error of Immunity and blood disorders

Purpose and goal

The clinical spectrum of inborn errors of immunity (IEI) is not only characterized by infections but often includes hematological complications. This international project aims to study young patients with hematologic disorders that might be associated with IEI. Four groups of patients will be studied: autoimmune cytopenia, polyclonal lymphoproliferation, monoclonal (malignant) lymphoproliferation, and bone marrow failure/myelodysplasia. Recruited subjects will undergo an extensive immunologic workup and genetic testing to detect both germline and somatic variants.

Expected effects and result

With the EU consortium, we expect to recruit a total of 700 children and young adults over a three-year period and identify disease-causing mutations in about 30% of patients. We will further develop diagnostic assays that can detect early disease biomarkers associated with IEI-related hematologic disorders. This will allow for prompt targeted therapy or hematopoietic stem cell transplantation, thereby avoiding late complications, increasing patients´ survival and improving their quality of life, while also reducing the economic burden of the disease on healthcare services.

Planned approach and implementation

We will start to recruit the patients together with other teams of the EU consortium, then perform the relevant generic and immunological tests. The results will then be analyzed, interpreted and validated. Diagnostic tests will be developed accordingly.