Human primary immunodeficiency diseases (PIDs) are a large group of rare
diseases and are characterized by a great genetic and phenotypic heterogeneity. A large
subset of PIDs is genetically defined, which has a crucial impact for the understanding of
the molecular basis of disease and the development of precision medicine.
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Discovery and development of new therapies for rare diseases has long been de-privileged
due to the length and cost of the processes involved. Interest has increased due to stimulatory
regulatory and supportive reimbursement environments enabling viable business models.
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Advancements in biomedical and computational sciences enable the development of rational,
designed approaches for identification of novel indications of already approved
drugs allowing faster delivery of new medicines. Drug repositioning is based either on
clinical analogies of diseases or on understanding of the molecular mode of drug action
and mechanisms of the disease. All of these are the basis for the development of precision
medicine.