Autoimmune Cytopenias as a Sign of Primary Immunodeficiency.

Autoimmune Cytopenias as a Sign of Primary Immunodeficiency: Immunological and Molecular Approach to Optimize the Diagnostic-therapeutic Pathway

Autoimmune cytopenias resistant to treatment are among the most common clinical manifestations observed in patients with congenital alterations of the immune system, such as primary immunodeficiencies (PI). The exact contribution of immune system alterations to the pathogenesis of autoimmune cytopenias has not yet been fully elucidated. Moreover, conventionally employed therapeutic strategies often fail, leading to increased healthcare costs, high morbidity, and even mortality. Therefore, there is a need to establish clinical guidelines for diagnosis and to identify early biomarkers capable of identifying individuals responsive to therapy. Thus, a systematic approach to the study of such pathologies will allow for the identification of early biomarkers and facilitate the development of targeted therapeutic strategies

Inclusion Criteria:

• Clinical and hematological diagnosis of autoimmune cytopenia

Additional inclusion criteria for classification into responder vs. non-responder:

• For immune thrombocytopenic purpura: platelet count increase >30,000 with at least a twofold increase from pre-treatment value
• For autoimmune hemolytic anemia: Hb ≥10 g/dL with an increase of at least 2 g/dL compared to baseline

Exclusion Criteria:

• Transient cytopenia without confirmation of autoimmunity where frontline treatment is not necessary