Table 1 Immunological evaluation of the index PS patient

Patient code

Index patient

Normal range for age (index patient)

Published patient [8]

Sex

Female

Male

Age (onset)

2 years

n.a.

Age (evaluation)

14 years

10 years

IgG (mg/dl)

1110

(604–1909)

280

IgA (mg/dl)

100

(61–301)

40

IgM (mg/dl)

105

(59–297)

50

Anti-tetanus toxoid antibodies (UI/ml)

0,15

Anti-diphtheria antibodies (UI/ml)

0,12

Total lymphocyte count (/mm³)

736 ↓↓

(1340–3173)

470

T cell counts/ml

437 ↓↓

(954–2332)

100

B cell counts/ml

164 ↓

(173–685)

100

% (absolute cell number/μl)

Normal percentage range for age (range of absolute cell number/μl for age) (index patient)

T cells (CD3⁺)

59,3 ↓ (437 ↓↓)

60,5–79,8 (954–2332)

n.a.

CD3⁺CD4⁺

43,2 (318 ↓↓)

30,3–48,3 (635–1334)

n.a.

 Naive (CD45RA⁺CCR7⁺)

49,9 (159 ↓)

34,3–74,6 (276–828)

n.a.

 RTE (CD45RA⁺CCR7⁺CD31⁺)

39,9 (127)

21,1–63,5 (21–699)

n.a.

 Central memory (CD45RA⁻CCR7⁺)

22,6 (72 ↓)

13,0–43,5 (107–420)

n.a.

 Effector memory (CD45RA⁻CCR7⁻)

19,5 (62 ↓)

8,5–28,1 (95–261)

n.a.

 Terminally differentiated (CD45RA⁺CCR7⁻)

7,6 ↑ (24)

0,7–6,6 (6–61)

n.a.

CD3⁺CD8⁺

9,1 ↓↓ (40 ↓↓↓)

13,8–37,5 (276–1035)

n.a.

 Naive (CD45RA⁺CCR7⁺)

58,5 (23,4 ↓↓↓)

26,7–72,9 (117–454)

n.a.

 Central memory (CD45RA⁻CCR7⁺)

10,2 (4 ↓)

1,2–11,6 (8–85)

n.a.

 Effector memory (CD45RA⁻CCR7⁻)

15,6 (6 ↓↓)

6,0–53,6 (19–536)

n.a.

 Terminally differentiated (CD45RA⁺CCR7⁻)

15,5 (6 ↓↓)

3,9–72,0 (13–699)

n.a.

 TCR γ/δ

3,3 (1)

0,5–21,5

n.a.

B cells (CD19⁺)

22,3 (164 ↓)

5,7–19,7 (173–685)

n.a.

 RBE (CD38^hiCD21^dim/loCD27⁻)

12,1 ↓ (20)

15,0–35,3 (20–179)

n.a.

 Naive (CD38^dim/loCD21^hiCD27⁻)

66,1 (108)

33,8–79,6 (40–398)

n.a.

 CD19^hiCD21^lo

6,3 (10)

1,1–10 (5–17)

n.a.

 Switched memory (IgD⁻CD27⁺)

8,8 (14)

2,7–20,6 (7–45)

n.a.

 IgM memory (IgD⁺CD27⁺)

2,5 ↓ (4 ↓↓)

3,5–24,1 (10–49)

n.a.

 Terminally differentiated (CD38^hiCD27^hiCD21^lo)

0,55 (0,5)

0,16–8,70 (0,4–11)

n.a.

 Plasmacells (CD38^hiCD20⁻CD138⁺)

0,21 (0,5)

0,04–3,20 (0,1–5,2)

n.a.

NK cells (CD3⁻CD16⁺CD56⁺)

11,0 (81 ↓)

4,6–27,8 (111–539)

n.a.