ImpactU Versión 3.11.2 Última actualización: Interfaz de Usuario: 16/10/2025 Base de Datos: 29/08/2025 Hecho en Colombia
Molecular Characterization of Five Patients with MHC Class II Deficiency Reveals Two New Mutations in the Trans-acting Regulator Factor CIITA and a Potential Founding Effect in the Colombian Population
Results: The cohort consisted of 3 females (P1, 4 and 5) and 2 males (P2 and 3) from 4 families: P1, P2 and P3 came from families F00165, F00829 and F00832, respectively, while P4 and 5 from family F00830 (siblings). Patients 1 to 4 exhibited a varied range of early onset-bacterial, viral and fungal infections and P1 and P4 died before the age of 1 year due to overwhelming CMV infections, and could not be transplanted. P2 developed CMV infection and was treated and transplanted at 7 months of age from an HLA-identical sibling
