Primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDs) comprise more than 130 usually monogenic genetic disorders which influence the development and/or function of the immune system (Notarangelo 2010). Although some primary immune defects are detected in adulthood, others characteristically present in infancy and early childhood with recurrent, atypical, and recalcitrant infections, often accompanied by mucocutaneous manifestations, diarrhea, and failure to thrive (Berron-Ruiz et al. 2000, Sillevis Smitt et al. 2005, Notarangelo 2010). Not only is early recognition vital for treatment, affecting patient survival and quality of life, but it also alerts clinicians to the need for genetic counseling, identification of asymptomatic carriers, and prenatal testing in family members.