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

Table 1 Pathogenicity prediction of mutation/variant (s) identified in the ITGB2 gene in Patient 1 and Patient 2

Information/computation (in silico) predictive programs	c.920T>C (p.Leu307Pro) in exon 8	c.758G>A (p.Arg253His) in exon 7	c.262C>T (p.Gln88Ter) in exon 4
Human gene mutation database (HGMD)	Not identified	Not identified	Not identified
National center for biotechnology information (NCBI): dbSNP and ClinVar	Not identified	Uncertain significance rs200423927	Not identified
Exome aggregation consortium (ExAC) and 1000 genomes project	Not identified	ExAC 0.0002817 heterozygous (only)	Not identified
Mutation taster (http://www.mutationtaster.org/)	Disease causing	Disease causing	Disease causing
PolyPhen (http://genetics.bwh.harvard.edu/pph2/)	Probably damaging	Benign	-
SIFT (http://sift.jcvi.org/)	Damaging	Damaging	-
ACMG classification (2015)	Likely pathogenic (PM2, PM3, PP2, PP3)	Likely pathogenic (PM2, PM3, PP2, PP3)	Pathogenic (PVS1, PM2, PM3, PP3)

Table 2 Clinical, laboratory and molecular information in two patients with leukocyte adhesion defect type-1

Clinical information	Patient 1	Patient 2
Age of onset	1 mo	9 d
Clinical characteristics	Omphalitis	Omphalitis
	Soft tissue infection	Gastroenteritis (occasional)
	Delayed wound healing
	Pneumonia
Delay separation of the umbilical cord	Yes	No
Family history of consanguineous marriage	Yes	No
Organisms	Streptococcus viridans	Staphylococcus epidemidis
	Staphylococcus epidermidis	Escherichia coli
	Staphylococcus aureus	Klebsiella pneumonia, ESBL
	Pseudomonas aeruginosa and others
White blood cells (WBC)	94600/mm3	65300/mm3
Absolute neutrophil counts (ANC)	67166/mm3	46800/mm3
ITGB2 mutation	c.920T>C (p.Leu307Pro) in exon 8 and c.758G>A (p.Arg253His) in exon 7	c.262C>T (p.Gln88Ter) in exon 4
Outcome (at present)	Alive	Alive

ESBL: Extended-spectrum beta-lactamase.