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Table 1 The summary of major clinical manifestation with CD40LG mutant X-linked hyper-IgM syndrome cases series in one center

From: Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation

Case No

Mutation site

Model probability value

Variant carrier

Onset age

Diagnosis

Pathogens

Clinical outcome

Family history

Plasma level of IgM

Plasma level of IgA

Plasma level of IgG

Plasma level of IgE

1

c.346+ 1 G > T

1.000

Maternal

2 m

ARDS

Rhinovirus

Alive

An elder brother died due to severe infection

0.83

0.05↓

15.10

13.60

2

c.521 A > G;

p. Q174R

0.997

Maternal

15y1m

Sepsis

Pseudomonas aeruginosa

Dead

Negative

4.36↑

0.09↓

0.42↓

14.86

3

c.654 C > A;

p. C218X

0.999

Maternal

2y6m

Encephalitis

Toxoplasma gondii

Alive

Negative

3.84↑

0.36

 < 0.33↓

 < 5.00

4

c.506 A > G;

p. Y169C

0.998

Maternal

7y6m

Leukoencephalopathy

Jamestown Canyon virus

Alve

Negative

2.79↑

0.05↓

1.31↓

21.27↑

5

c.347_409del

p. K96Cfs*21

0.999

De novo

7y

Recurrent pulmonary infections

–

Alive

Negative

2.59↑

0.08↓

0.46↓

11.12

6

c.655_657delGGG

p. 219delG

0.999

Maternal

1y2m

Sepsis

Cytomegalovirus

Alve

An elder brother died due to severe infection

2.12↑

0.07↓

0.37↓

17.20↑

7

c.659 dupA

p. Q221Tfs*10

0.999

De novo

1y10m

Recurrent pulmonary infections

Candida

Alive

Negative

1.96↑

0.14↓

0.82↓

 < 5.00

  1. #Negative values for IgM, 0.21–1.92 g/L; IgA, 0.19–1.31 g/L; IgG, 2.86–16.80 g/L; IgE, < 15 IU/mL
  2. ↑ indicated elevated plasma level; ↓ indicated reduced plasma level