BACKGROUND: Primary immunodeficiencies represent model diseases for the mechanistic
understanding of the human innate and adaptive immune response. They are clinically
highly relevant per se because in patients with severe combined immunodeficiency (SCID),
infections caused by opportunistic pathogens are typically life-threatening early in life.
OBJECTIVES: We aimed at defining and functionally characterizing a novel form of SCID in
an infant of consanguineous parents who presented with life-threatening Pneumocystis …