Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports

Figure 1 Sign of omphalitis in Patient 2.

Figure 2 Direct DNA sequence analysis of the ITGB2 gene. A and B: Homozygous c.920T>C (p.Leu307Pro) mutation in exon 8 and homozygous c.758G>A (p.Arg253His) mutation in exon 7 in the genomic DNA of Patient 1; C and D: Heterozygous c.920T>C mutation in exon 8 and heterozygous c.758G>A mutation in exon 7 of both parents in Patient 1; E: homozygous c.262C>T (p.Gln88Ter) mutation in exon 4 in the genomic DNA of Patient 2; F: heterozygous c.262C>T mutation in both paternal and maternal DNA.