General concepts of humoral immune deficiencies

Abstract

Humoral immune deficiencies (HID) comprise a group of diseases characterized by the impossibility to develop an effective immune response mediated by immunoglobulins (Ig). Patients with HID have infections caused by capped extracellular bacteria, mainly in the respiratory and/or gastrointestinal tract, and a higher predisposition to suffer from autoimmune diseases and cancer. Some of them are caused by well-defined genetic defects, while the cause of others is unknown. The clinical manifestations of some HID may be late and the diagnosis is supported by laboratory tests, such as serum level of the Ig, determination of lymphocyte populations, and functional studies. Gammaglobulin replacement therapy significantly decreases serious infections. In order to achieve an early diagnosis, it is necessary to maintain a high index of suspicion and evaluate the clinical and laboratory manifestations that suggest HID. Mass sequencing technologies have favored the description of mutations in various genes that lead to a clinical HID phenotype; which paves the way to a better understanding of immune pathologies in HID.