# Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/gain-of-function-mutations-in-ifih1-cause-a-spectrum-of-human-disease-phenotypes/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Gillian Rice,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader‐Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail E. Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel‐Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O’Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert A. Robinson,Diana Rodriguez,E. Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sun Hur,Yanick J. Crow |
| Citations | 598 |
| DOI | 10.1038/ng.2933 |
| Fields | Immunology and Microbiology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | http://nrs.harvard.edu/urn-3:HUL.InstRepos:13454851 |
| OpenAlex ID | https://openalex.org/W1989032379 |
| PMID | 24686847 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Sameer M. Zuberi](https://scholariq.org/researchers/sameer-m-zuberi/)
- [Lieven Lagae](https://scholariq.org/researchers/lieven-lagae/)

## Paper primary topic

- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)

## Paper topics

- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)
- [Systemic Lupus Erythematosus Research](https://scholariq.org/topics/systemic-lupus-erythematosus-research/)
- [Cytokine Signaling Pathways and Interactions](https://scholariq.org/topics/cytokine-signaling-pathways-and-interactions/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.