MDA5 gain-of-function associated with a Glu794del mutation

J Clin Immunol. 2024 Oct 2;45(1):20. doi: 10.1007/s10875-024-01813-7.

Authors

Callie Wong¹, Lukas Gerasimavicius¹, Yanick J Crow^{2

3}, Carolina Uggenti¹; E794del consortium

Collaborators

E794del consortium:
Jenny Carmichael, Hayley Lees, Gillian I Rice, Fraser Jh Sutherland, Joseph A Marsh

Affiliations

¹ MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
² MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. [email protected].
³ Laboratory of Neurogenetics and Neuroinflammation, Institute Imagine, Paris, France. [email protected].

No abstract available

Keywords: Deletion mutation; Gain-of-function; IFIH1; Interferonopathy; MDA5.

Publication types

Letter
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Gain of Function Mutation*
Humans
Interferon-Induced Helicase, IFIH1* / genetics
Male
Mutation / genetics

Substances

Interferon-Induced Helicase, IFIH1
IFIH1 protein, human

Grants and funding