Inborn Errors of Immunity on Adults

Abstract

Introduction: Common variable immunodeficiency is an inborn error of immunity that has its peak incidence in adulthood. It is characterized by an increased susceptibility to respiratory infections, autoimmunity and malignancy, secondary to a state of hypogammaglobulinemia and immunodysregulation, caused by mutations and partially understood genetic interactions. The diagnosis is one of exclusion, has great clinical heterogeneity and is commonly misinterpreted.

Objective: To describe a clinical case of a patient affected by an inborn error of immunity.

Methods: Retrospective description of a case report.

Conclusions: Common variable immunodeficiency disorder should be considered within the differential diagnoses in every patient who presents any of its clinical manifestations, mainly those related to recurrent respiratory infections, an antecedent that the patient may present as relevant during the first-level consultations with general medicine physicians or with specialists. Its diagnostic approach consists in measuring serum immunoglobulin levels, an easily accessible laboratory test for any clinic physician regardless of their healthcare level, while its treatment is based on the periodic administration of exogenous human immunoglobulin intravenously or subcutaneously.