Table 1. Summary of demographics,... | Rockefeller University Press

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
P4-1^b	14	21	Petechia	p.L204P	40	20	✓	✓	✓	No	No

					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
P4-1^b	14	21	Petechia	p.L204P	40	20	✓	✓	✓	No	No

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

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

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