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Hemophilia A subjects with an intron-22 gene inversion mutation show CD4+ T-effector responses to multiple epitopes in FVIII

BackgroundAlmost half of severe hemophilia A (HA) is caused by an intron 22 inversion mutation (Int22Inv), which disrupts the 26-exon F8 gene. Inverted F8 mRNA exons 1-22 are transcribed, while F8B mRNA, containing F8 exons 23-26, is transcribed from a promoter within intron 22. Neither FVIII activi...

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Principais autores: Devi Gunasekera, Pooja Vir, Ahmad Faisal Karim, Margaret V. Ragni, Kathleen P. Pratt
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2023-03-01
Serier:Frontiers in Immunology
Fag:
hemophilia A
immune tolerance
intron-22 inversion mutation
epitope mapping
factor VIII
Online adgang:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1128641/full
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