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Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia
BACKGROUND: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LR...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Universidad del Valle
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141146/ https://www.ncbi.nlm.nih.gov/pubmed/32284663 http://dx.doi.org/10.25100/cm.v50i3.3969 |