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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