Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

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Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 234(2022) vom: 17. Jan., Seite 108910
1. Verfasser: Hargreaves, Chantal E (VerfasserIn)
Weitere Verfasser: Dhalla, Fatima, Patel, Arzoo M, de Oteyza, Andrés Caballero Garcia, Bateman, Elizabeth, Miller, Joanne, Anzilotti, Consuelo, Ayers, Lisa, Grimbacher, Bodo, Patel, Smita Y
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2022
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Activated phosphoinositol 3-kinase delta syndrome Combined immune deficiency NF-kappaB1 haploinsufficiency NFKB1 PIK3CD PIK3R1 NF-kappa B p50 Subunit NFKB1 protein, human mehr... TNFRSF13B protein, human Transmembrane Activator and CAML Interactor Protein PIK3R1 protein, human EC 2.7.1.- Class Ia Phosphatidylinositol 3-Kinase EC 2.7.1.137
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