Ettinger et al reviewed skin conditions associated with primary immunodeficiencies.
The authors are from University Medical Center Regensburg and University Hospital of Cologne.
Patient selection: primary immunodeficiency with SLE-like skin lesions
Conditions associated with SLE-like skin lesions include:
(1) complement deficiency: C1q, C1r, C1s, C1-esterase inhibitor deficiency, C2, C3, C4, C5
(2) IgA deficiency (IGAD1)
(3) chronic granulomatous disease (CYBA/B, NCF1/2/4)
(4) common variable immunodeficiency = CVID (CD19, CD81, CR3, ICOS, IL21, LRBA, MS4A1, NFKB2, TNFRSF13B/C)
(5) spondyloenchondro-dysplasia with immunodysregulation = SPENCD (ACPS)
