A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
J Clin Invest
.
2024 May 16:e179193.
doi: 10.1172/JCI179193.
Online ahead of print.
Authors
Jarmila Stremenova Spegarova
1
,
Praisoody Sinnappurajar
2
,
Dalila Al Julandani
2
,
Rokas Navickas
1
,
Helen Griffin
1
,
Manisha Ahuja
1
,
Angela Grainger
1
,
Katie Livingstone
3
,
Gillian I Rice
4
,
Fraser Sutherland
3
,
Corinne Hayes
5
,
Simon Parke
5
,
Lewis Pang
6
,
Marion R Roderick
7
,
Mary Slatter
8
,
Yanick Crow
9
,
Athimalaipet V Ramanan
2
,
Sophie Hambleton
1
Affiliations
1
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
2
Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.
3
MRC Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.
4
Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Manchester, United Kingdom.
5
Paediatrics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
6
Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
7
Pediatric Immunology, Bristol Royal Hospital for Children, Bristol, United Kingdom.
8
Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
9
MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, United Kingdom.
PMID:
38753439
DOI:
10.1172/JCI179193
No abstract available
Keywords:
Autoimmunity; Immunology; Lupus; Monogenic diseases; Stem cell transplantation.