Although the pathogenesis of XLA is well understood, several issues remain open for discussion. We describe several unresolved issues, including non-coding BTK variants, contiguous deletion syndrome, Helicobacter infection, non-infectious neurodegeneration, renal involvement, and malignancies.

Human immunity is often insufficient against infectious agents and sometimes over-reactive to innocuous components of the environment or the human body. Genetic, immunological, and clinical studies of inborn errors of immunity—where responses are either too weak or too strong—offer unprecedented insights into the physiology and pathology of host defense. This is the focus of the Journal of Human Immunity.