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Table 1 Characteristics of 22 XLA male patients

From: Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations

Patients

Age at onset, y

Age at diagnosis, y

CD19+ B cells, %

IgG,g/l (5.66–14.25)

IgA,g/l(0.8–5)

IgM,g/l (0.3–2.09)

Clinical presentation

P1

1

2

1(6–25)

0.510

0.060

0.060

Pneumonia, herpetic stomatitis

P2

3

5

0(6–25)

< 0.810

< 0.330

0.300

Mycoplasmal pneumoniae

P3

6 months

4

0.00(5.0–18.0)

0.170

0.030

0.220

Sepsis, bilateral otitis media, sepsis

P4

14

15

1(6–25)

< 1.770

< 0.060

< 0.080

Infectious diarrhea, dystrophic anemia

P5

7 months

10 months

0.240

0.030

0.200

Bronchopneumonia, gastrointestinal dysfunction

P6

9

26

0.260

P7

2

7

0.23(6–25)

< 0.020

< 0.070

< 0.150

Central nervous system infection, epilepsy, upper respiratory infection, hydronephrosis

P8

3

9

0.0(5.0–18.0)

0.710

0.010

0.130

Bronchopneumonia, bronchiectasis, airway hyperresponsiveness, sinusitis

P9

3

13

0.00(5.0–18.0)

4.400

0.460

0.570

Bronchopneumonia, pleural effusion

P10

20 days

4

0.00(5.0–18.0)

5.640

0.110

0.050

Pneumonia, bronchiectasis

P11

5

5

0(6–25)

< 0.550

< 0.050

< 0.200

Acute upper respiratory tract infection, viral encephalitis, pneumonia

P12

7

8

1(6–25)

< 0.800

< 0.090

< 0.220

Bronchopneumonia

P13

3

3

0.00(5.0–18.0)

1.500

0.790

0.760

Bronchopneumonia, dilated cardiomyopathy, Vitamin k deficiency, Upper respiratory tract infection, sepsis

P14

2

7

0.04(5.0–18.0)

P15

2

3.5

0.100

0.000

0.040

Pneumonia

P16

1

10

0.00(5.0–18.0)

0.410

0.020

0.040

Recurrent cough, bronchiectasis, pulmonary infection, hepatitis B virus carrier

P17

9 months

2

0(6–25)

< 0.100

< 0.090

< 0.18

Pneumonia

P18

1

5

0.00(5.0–18.0)

0.100

0.020

0.040

Bronchopneumonia

P19

2

8

< 2.090

< 0.000

< 0.000

Pulmonary infection, bronchiectasis, sinusitis

P20

3

3

< 0.030

< 0.000

< 0.060

Pneumonia, iron-deficiency anemia, hypoalbuminemia

P21

6 months

8

0.300

P22

6 months

5

0.03(5.0–18.0)

< 0.740

< 0.000

< 0.130

Perianal abscess, anal fistula, chronic nasosinusitis, otitis media, sepsis