Table 1.
Summary of demographics, clinical presentation, genotype, and liver features of patients with GIMAP5 deficiency
Liver transaminasesPortal hypertension and hepatocellular carcinoma
PatientAge at presentation (yr)Current age (yr)Clinical presentationGenotype, GIMAP5AST (U/L)ALT (U/L)SplenomegalyThrombocytopeniaEsophageal varicesAscitesHepatocellular 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).

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