Figure 1. Laboratory and radiological... | Rockefeller University Press

Figure 1.

$Laboratory and radiological features of the patient with TLR7 F507S GOF disease. (A) Summary of immunologic and metabolic evaluations. (B) Longitudinal platelet counts demonstrating refractory thrombocytopenia despite conventional therapy and modest response following ruxolitinib initiation. (C) Serum triglyceride trajectory showing severe hypertriglyceridemia (peaks at 16.5 and 27 mo) and normalization to <150 mg/dl following combination therapy with ruxolitinib and prednisolone. (D) T2-weighted magnetic resonance imaging images (axial and coronal) at 30 mo revealing bilateral temporal subcortical and periventricular white matter abnormalities (white arrows). ANA, antinuclear antibody. WBC, white blood cells; ANA, antinuclear antibody; Anti-dsDNA, anti-double stranded DNA antibody; ESR, erythrocyte sedimentation rate; CRP, C-reactive protein; LDL, low-density lipoprotein; HDL, high-density lipoprotein; VLDL, very low-density lipoprotein; SGOT, serum glutamic-oxaloacetic transaminase; SGPT, serum glutamic-pyruvic transaminase.$

Laboratory and radiological features of the patient with TLR7 F507S GOF disease. (A) Summary of immunologic and metabolic evaluations. (B) Longitudinal platelet counts demonstrating refractory thrombocytopenia despite conventional therapy and modest response following ruxolitinib initiation. (C) Serum triglyceride trajectory showing severe hypertriglyceridemia (peaks at 16.5 and 27 mo) and normalization to <150 mg/dl following combination therapy with ruxolitinib and prednisolone. (D) T2-weighted magnetic resonance imaging images (axial and coronal) at 30 mo revealing bilateral temporal subcortical and periventricular white matter abnormalities (white arrows). ANA, antinuclear antibody. WBC, white blood cells; ANA, antinuclear antibody; Anti-dsDNA, anti-double stranded DNA antibody; ESR, erythrocyte sedimentation rate; CRP, C-reactive protein; LDL, low-density lipoprotein; HDL, high-density lipoprotein; VLDL, very low-density lipoprotein; SGOT, serum glutamic-oxaloacetic transaminase; SGPT, serum glutamic-pyruvic transaminase.