Copyright
©The Author(s) 2022.
World J Clin Pediatr. Sep 9, 2022; 11(5): 429-436
Published online Sep 9, 2022. doi: 10.5409/wjcp.v11.i5.429
Published online Sep 9, 2022. doi: 10.5409/wjcp.v11.i5.429
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 |
- Citation: Suksawat Y, Pacharn P, Siripipattanamongkol N, Boonyawat B. Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports. World J Clin Pediatr 2022; 11(5): 429-436
- URL: https://www.wjgnet.com/2219-2808/full/v11/i5/429.htm
- DOI: https://dx.doi.org/10.5409/wjcp.v11.i5.429