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Table 1 Two-year follow-up of clinical and laboratory data of the patient

From: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Assessment At diagnosis 2 years follow-up
Age (year) 6 8
GMFM-88 Dimension Subscore (Percentile, %)
A. Lying and rolling 50 (98) 51 (100)
B. Sitting 59 (98.3) 57 (95)
C. Crawling and kneeling 41 (97.60) 35 (83.33)
D. Standing 31 (79.50) 17 (43.59)
E. Walking, running, and jumping 50 (69.40) 9 (12.5)
GMFM-88 Dimension Total percentile (%) 88.56 64.02
Pediatric Balance Scale (point) 23 5
Total IgE (mg/dl)  < 0.0  < 1.5
IgG (mg/dl) 922.6 1033.7
IgM (mg/dl) 469.0 538.0
IgA (mg/dl) 12.4 29.6
CD3 (T cell) (%) 54.45 50.15
CD4 (T helper) (%) 23.85 21.35
CD8 (T suppressor) (%) 22.32 16.92
CD19 (B cell) (%) 9.14 11.04
NK cell (%) 33.51 33.34
AFP (ng/mL) 1.41 336.03
  1. GMFM Gross Motor Function Measure, NK cell Natural killer cell, AFP Alpha fetoprotein