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. Author manuscript; available in PMC: 2023 Dec 1.
Published in final edited form as: Ann Rheum Dis. 2022 Aug 17;81(12):1712–1721. doi: 10.1136/ard-2022-222795

Table 1.

Summary of clinical features in affected males from two families with SAT1 mutations.

Patient (gender) Family (ethnic origin) Age of onset Brief clinical symptoms Renal disorder Immunological disorder
3 (M) Family #1 (AA) 6 y Malar rash, Nonerosive arthritis, Serositis, Pleuritis and Pericarditis Cellular casts ANA, anti-dsDNA, anti-Smith, anti-CL, anti-Ro, anti-RNP; Low C3, C4
4 (M) Family #1 (AA) 7 y Malar rash, Photosensitivity, Leukopenia, Lymphopenia Proteinuria ANA, anti-dsDNA, anti-Smith, Anti-CL, anti-Ro, anti-RNP; Low C3
7 (M) Family #2 (AA) 12 y Nonerosive arthritis, Anemia, Fatigue Proteinuria; Renal biopsy: membranous proliferative GN (Class V) ANA, anti-dsDNA; Low C3, C4
14 y Renal failure
8 (M) Family #2 (AA) 8 y CNS lupus, Nonerosive arthritis Proteinuria; Renal biopsy: focal proliferative GN (Class III) Anti-dsDNA; ANA > 1:1280
14 y Vasculitis affecting the eyes, 2/2 Diffuse lupus glomerulonephritis with crescents Anti-dsDNA, anti-Smith, anti-RNP, anti-β2GPI and anti-CL

Abbreviation: M: male; AA: African American; y: Years old; GN: Glomerulonephritis; anti-dsDNA: anti-double stranded DNA; ANA: Anti-Nuclear Antibody; anti-CL: anti-cardiolipin; anti-RNP: anti- antinuclear ribonucleoprotein; anti-β2GPI: anti-β2 glycoprotein I; CNS: central nervous system.