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. 2020 Feb;9(1):34–42. doi: 10.21037/tp.2020.01.06

Table 2. Clinical characteristics of five patients with leukocyte adhesion deficiency type I (LAD-I) included in the current study.

Patient Gender Age at diagnosis (m) Granulocytosis (×109/L) CD18+ leukocytes Gene defect Zygosity Mutations Infections
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