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Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports
BACKGROUND: A leukocyte adhesion defect (LAD) is a rare primary immunodeficiency disorder. LAD type 1 (LAD-1) is the most common, which is caused by ITGB2 mutation resulting in dysfunction of β2 integrin, which impairs leukocyte adherence to the endothelium. CASE SUMMARY: The first two cases of LAD-...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9516493/ https://www.ncbi.nlm.nih.gov/pubmed/36185095 http://dx.doi.org/10.5409/wjcp.v11.i5.429 |