| 1 |
Male |
4 |
20–117 |
2.4% |
ITGB2 |
Homozygous |
exon7 c.817G>A, p.G273R |
Omphalitis, pneumonia, sepsis, intestinal infection |
| 2 |
Female |
23 |
18–76 |
3.6% |
ITGB2 |
Compound heterozygous |
exon13 c.1794dupC p.N599Qfs*93; exon7 c.850G>A, p.G284S |
Omphalitis, pneumonia, skin and soft tissue infection |
| 3 |
Male |
8 |
14–66 |
3.4% |
ITGB2 |
Compound heterozygous |
exon13 c.1788C>A, p.C596X; exon7 c.817G>A, p.G273R |
Omphalitis, pneumonia, skin and soft tissue infection, urinary tract infection |
| 4 |
Female |
13 |
19–69 |
2.5% |
ITGB2 |
Homozygous |
exon7 c.841_849del9 |
Pneumonia, sepsis, intracranial infection |
| 5 |
Female |
120 |
11–52 |
0.8% |
ITGB2 |
Compound heterozygous |
exon7 c.769C>T, p.Arg257Trp; exon6 c.533C>T, p.Pro178Leu |
Pneumonia, intestinal infection, skin and soft tissue infection, dental ulcer and gingivitis |