Karen Enthoven

Selected publications

PUBLISHED 19 September 2024 Journal of Clinical Immunology
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Authors:
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, [ ... ], Karen Enthoven, [ ... ], Jean-Laurent Casanova, Kuang-Chih Hsiao, Alberto Pinzon-Charry, Cindy S Ma, Stuart G Tangye
PUBLISHED 5 August 2024 Journal of Clinical Immunology
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Authors:
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, [ ... ], Karen Enthoven, [ ... ], Jean-Laurent Casanova, Kuang-Chih Hsiao, Alberto Pinzon-Charry, Cindy S Ma, Stuart G Tangye
PUBLISHED 17 October 2021 Journal of Clinical Immunology
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Authors:
Jin Yan Yap, Leen Moens, Ming-Wei Lin, Alisa Kane, Anthony Kelleher, [ ... ], Karen Enthoven, [ ... ], Giorgia Bucciol, Selket Delafontaine, Cindy S Ma, Stuart G Tangye, Isabelle Meyts