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. 2021 May 6;218(7):e20201745. doi: 10.1084/jem.20201745

Table 1. Summary of demographics, clinical presentation, genotype, and liver features of patients with GIMAP5 deficiency.

Liver transaminases Portal hypertension and hepatocellular carcinoma
Patient Age at presentation (yr) Current age (yr) Clinical presentation Genotype, GIMAP5 AST (U/L) ALT (U/L) Splenomegaly Thrombocytopenia Esophageal varices Ascites Hepatocellular carcinoma
P1-1 13 25 Ecchymosis p.I47T 65 53 No No
P1-2 11 23 Hemoptysis p.I47T 86 70 No No
P2-1 2 Died at 17 Recurrent infections n/a 49 54 No No
P2-2 15 Died at 22 Fatigue, epistaxis p.L223F 85 247 No
P2-3 17 33 Abdominal and back pain p.L223F n/a n/a n/a No No
P2-4 n/a 31 Recognized during screening of family members p.L223F n/a n/a No n/a No No
P2-5 35 Died at 44 Fatigue p.L223F 40 37 No a
P3-1 2 7 Elevated transaminases and GGT, and hepatosplenomegaly p.P109L 113 76 No
P4-1b 14 21 Petechia p.L204P 40 20 No No

ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, γ-glutamyl transferase; n/a, not available.

a

One 2-cm hepatic lesion with arterial enhancement and portal venous washout highly suspicious for hepatocellular carcinoma.

b

Patient was first described in Patterson et al. (2018).