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. Author manuscript; available in PMC: 2024 Dec 9.
Published in final edited form as: Nat Immunol. 2024 Apr 12;25(5):764–777. doi: 10.1038/s41590-024-01817-w

Figure 1. Human SHARPIN deficiency causes autoinflammation and hepatic glycogenosis.

Figure 1.

(a) Computed tomography imaging demonstrating the swelling of the right parotid gland (arrowhead) of patient 1 (P1) at age 5. (b) Swelling of P1’s left ankle before initiation of treatment with etanercept. (c) Magnetic resonance imaging demonstrating joint inflammation of P1’s ankle joint (left) and atlanto-axial joint (right). Arrowheads indicate inflammatory changes. (d) Pre-treatment sterile synovial fluid analysis from the ankle joint of P1. (e) Colitis in P1. (f) Hematoxylin and eosin staining of liver biopsy from P1 suggestive of glycogenosis. (g) Family pedigrees. (h) Schematic domain structures of the three LUBAC subunits. hs: Homo sapiens; mm: Mus musculus. (e-f) Representative of three biopsy specimens.