Here the study examines the autoimmune and rheumatological characteristics of primary immune deficiency with the emphasis on current genetic disorders, PID autoimmunity spectrum and targeted treatments. Initially, PIDs were classified as immune system genetic illnesses that contribute to infectious vulnerability. Immune dysfunction and dysregulation are now widely established to also produce non-infectious consequences, including autoimmunity. The increased use of molecular PID tests has shown the diversity of clinical diseases.

Recently, phosphoinositide activated 3-kinase syndrome and PIDs mediated by the gain in function in STAT1 and STAT3 have been discovered in disorders with substantial auto-immunity. Similarly, a better understanding of the range of auto-immunity in PIDs has been achieved by the identification of large cohorts of patients with molecular diagnoses in more common PIDs, such as common variable immune deficiency (CVID). The molecular understanding of these PIDs can lead to the treatment of the autoimmune associated with a certain therapeutic. The signs and/or complicating characteristics of primary immunodeficiencies may be auto sufficient and rheumatological diseases. Assessment of PIDs can improve diagnosis and therapy choices in patients who have an early, multiple and/or unusual autoimmunity.