Defining a new immune deficiency syndrome: MAN2B2-CDG

Defining a new immune deficiency syndrome: MAN2B2-CDG

We describe the first case of MAN2B2 deficiency in a patient with immune dysregulation, developmental delay, and stroke. Altered mannosylation profile was restored in patient cells upon transduction of wild-type MAN2B2.

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Veröffentlicht in:Journal of allergy and clinical immunology 2019-11, Vol.145 (3), p.1008-1011
Hauptverfasser: Verheijen, Jan, Wong, Sunnie Y, Rowe, Jared H, Raymond, Kimiyo, Stoddard, Jennifer, Delmonte, Ottavia M, Bosticardo, Marita, Dobbs, Kerry, Niemela, Julie, Calzoni, Enrica, Pai, Sung-Yun, Choi, Uimook, Yamazaki, Yasuhiro, Comeau, Anne Marie, Janssen, Erin, Henderson, Lauren, Hazen, Melissa, Berry, Gerard, Rosenzweig, Sergio D., Aldhekri, Hasan Hamdan, He, Miao, Notarangelo, Luigi D., Morava, Eva
Format: Artikel
Sprache:eng
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Zusammenfassung:We describe the first case of MAN2B2 deficiency in a patient with immune dysregulation, developmental delay, and stroke. Altered mannosylation profile was restored in patient cells upon transduction of wild-type MAN2B2.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2019.11.016