Which PID syndromes are most commonly associated with autoimmune phenomena?
• Selective IgA deficiency, CVID, XLA, and hyper-IgM syndrome are the B-cell immunodeficiency syndromes commonly associated with autoimmune phenomena.
• Absence of certain complement components (C1, C2, and C4) is also associated with autoimmune phenomena, particularly SLE.
• Chronic granulomatous disease, a primary disorder of neutrophils in which there is diminished oxidative burst, is associated with the presence of antinuclear antibody (ANA) and a malar-like rash in female carriers (but less commonly, SLE) and inflammatory bowel disease.
• SCID, Omenn syndrome (Rag 1and 2 defects), APECED, i.e., autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (AIRE defect), IPEX (Foxp3 defect), autoimmune lymphoproliferative syndrome (FAS defect) and Wiskott–Aldrich syndrome (WASp defect) have T-cell and immune tolerance defects and can have autoimmune cytopenias (AIHA, ITP), autoimmune enteropathy, arthritis, other organ-specific immune-mediated damage, and/or atopic (eczema) features as part of their presentations. PIDs affecting CD8 and NK cell cytotoxicity such as perforin deficiency are at risk to develop hemophagocytic syndrome