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Table 1 Summary of Chinese patients with DOCK8 mutation

From: Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

Index

Case

Sex

Mutation

Clinic feature

Infection

Allergy

Atopic dermatitis

Eczema

1

F

c.1126_1285del

Yes

Yes

Yes

No

2

M

c.646_647del

Yes

Yes

Yes

No

3

M

c.646_647del

No

No

Yes

No

4

F

c.5842delG, c.5843C > A

Yes

Yes

No

Yes

5

M

Exon11 hom del

Exon 12–33 het del

Yes

Yes

No

Yes

6

F

c.3152delG

Yes

Yes

No

Yes

7

F

c.3152delG

Yes

Yes

No

Yes

8

F

Exon 2 hom del

Exon 1, 3–39 het del

Yes

Yes

No

Yes

9

F

Exon 7 hom del

Exon 8–10 het del

Yes

Yes

No

Yes

10

M

c.1278–1279 del TG

Yes

Yes

No

Yes

11

F

c.4886 G > A

Yes

No

No

Yes

  1. F female, M male