Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

Abstract

Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches. In this review, we consider some of the key understandings that should direct diagnostic and treatment approaches in PID and offer insights into current and emerging management approaches and the lifelong care of patients from childhood through to adulthood.

Keywords: Primary immunodeficiency; continuity of care; diagnosis; management; reference centers/networks; teenagers; transfer clinic; transition care; young adults.

Fig. 1

The three key diagnostic aspects of immunodeficiency to consider in CVID

Fig. 2

The overlap and interconnectivity of states in which immune dysfunction plays a part in disease pathology (image devised by A. Cant)

Fig. 3

An example of a transition algorithm (courtesy of S. Workman)