An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

Table 1 Laboratory parameters and cytokine levels during disease course

Laboratory parameters	Onset	2 weeks after HLH-treatment was started	6 weeks before HSCT	12 months after HSCT
White blood counts (6-17 × 10³/uL)	3.4	14.54	5.4	10.1
Neutrophils (1.68–8.5 × 10³/uL)	2.33	12.51	3.86	4.3
Lymphocytes (3–11.2 × 10³/uL)	0.5	0.34	0.62	8.51
Haemoglobin (10.5–15.5 g/dl)	7.1	8.0	8.0	10.9
Platelet (150-450 × 10³/uL)	360	377	406	393
Ferritin (17–390 ng/ml)	24,716	25	2051	34
Fibrinogen (200–500 mg/dl)	253	240	219	208
D-dimer (< 0.5 microg/ml)	2.81	0.35	0.5	0.25
PTT (25–34 s)	27.3	25.2	33	31.9
PT (12.1–14.5 s)	13	13.4	12	13.3
PT RATIO-INR (0.92–1.14 s)	1.07	1.13	0.92	1.07
Triglycerides (40–150 mg/dl)	247	111	316	110
AST (5–40 UI/L)	97	40	48	32
ALT (5–40 UI/L)	27	18	14	34
LDH (100–600 UI/L)	2217	525	869	385
CRP (0–0.5 mg/dl)	4.18	< 0.05	0.07	0.05
IL-18 (pg/ml)^a	250,000	83,200	113,789	1024
CXCL9 (pg/ml)^a	3556	4942	3327	< 300

AST aspartate aminotransferase, ALT alanine aminotransferase, LDH lactate dehydrogenase, CRP C-reactive protein, HSCT hematopoietic stem cell transplantation
^aThe values for IL-18 and CXCL9 established in healthy controls are: mean 265.0 pg/ml, IQR 221.3–305.1 pg/ml for IL-18 and 612.4 pg/ml, IQR 429.5–801.5 pg/ml for CXCL9

ISSN: 1546-0096