Why are the PID syndromes of concern in rheumatology?
More than 300 PID syndromes have now been established, and it is estimated that one-third of patients with a PID syndrome have or develop significant autoimmune manifestations with organ-threatening disease, such as autoimmune endocrinopathies, autoimmune cytopenias (autoimmune hemolytic anemia [AHA], idiopathic thrombocytopenia [ITP]), lymphocytic or granulomatous lung or gastrointestinal (GI) tract disease, or disease meeting American College of Rheumatology or European League Against Rheumatism classification criteria for rheumatoid arthritis (RA) (CVID, lipopolysaccharide-responsive and beige-like anchor protein [LRBA] deficiency, cytotoxic T-lymphocyte-associated protein 4 [CTLA4] haploinsufficiency) or systemic lupus erythematosus (SLE) (TREX1; C4, PRKCD, and FasL deficiencies). Many of the identified genes associated with PID syndromes predispose individuals to not only infection but also to immune dysregulation and autoimmunity.
