Connecting B cell differentiation pathways and antibody deficiencies

The studies described in this thesis help understand why disturbances in specific genes and processes lead to antibody deficiencies. They showed that B cell precursor development in bone marrow is not a simple linear process, but rather a complex interplay of processes that make every individual cell follow its own route of maturation into a naive B cell. Furthermore, these studies showed that subtle differences in protein function can explain phenotypical differences between different disease entities in CD19- complex deficiencies. Showing how genotype-phenotype correlations can be a tool in patient-prognostics. These studies also showed that the balance in the PI3K/PTEN-AKT signaling cascade is critically important for both humoral and anti-viral immunity, since disturbances lead to antibody deficiencies and reduced viral immunity due to exhaustion. This is especially important in the context of new, personalized, specific treatments for these patients.

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