Table 1 Clinical characteristics of patients with APDS1 caused by PIK3CD gene

Age

5Y

7Y10M

7Y2M

Gender

M

M

M

Main manifestations

fever, hepatosplenomegaly

abdominal pain  intussusception

pneumonia, hematuria

Recurrent infection

yes

no

yes

Recurrent fever

yes

no

yes

Hepatosplenomegaly

yes

no

no

Lymphadenopathy

yes

yes

yes

Other exceptions

swelling of both knees

multiple polyps of intestine, thrombocytopenia

otitis media, allergic rhinitis

WBC(10^9/L)

10.12

11.18

9.4

5.5–12

Hgb (g/L)

84

122

113

110–149

PLT(10^9/L)

146

20

131

100–378

LYM(10^9/L)

2.05

1.42

1.27

1.7–4.7

LYM(%)

29.0

16.6

13.5

22–57

CD16 + CD56 (n/ul)

64

192

833

210–1514

CD19+ (n/ul)

55

169

194

240–1317

CD3 + T (n/ul)

1740

721

1307

805–4459

CD3 + CD8 + T (n/ul)

1048

254

803

314–2080

CD3 + CD4 + T (n/ul)

450

379

470

345–2350

IgG (g/L)

0.08

11

8.21

3.48–7.01

IgM (g/L)

1.6

3.57

1.53

0.42–1.73

IgA (g/L)

0.26

2.01

0.45

0.28–1.73

Hematuria

(-)

(-)

(++)

(-)

Proteinuria

(-)

(-)

(+)

(-)

p-ANCA

/

/

(+)

(-)

c-ANCA

/

/

(-)

(-)

MPO (AU/ml)

/

/

(-)

< 16

Proteinase 3 (AU/ml)

/

/

(-)

< 16

EBEA-IgG

(-)

(-)

(+)

(-)

EBV-IgG

(-)

(+)

(+)

(-)

CMV-IgM

(-)

(+)

(-)

(-)

CMV-IgG

(-)

(+)

(+)

(-)