Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene

BackgroundBare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates major histocompatibility complex class II (MHC II) expression.ObjectiveWe report the case of a Saudi boy with a novel mutation in the CIITA ge...

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Glavni autori: Mohammed F. Alosaimi (Autor), Muddathir H. Hamad (Autor), Muneera J. AlShammari (Autor), Dima Z. Jamjoom (Autor), Najd S. Musibeeh (Autor)
Format: Knjiga
Izdano: Frontiers Media S.A., 2023-09-01T00:00:00Z.
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