A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant-Reference-Cited by-同舟云学术

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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

Published:2024-05-16 Issue:13 Volume:134 Page:
ISSN:1558-8238
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Stremenova Spegarova Jarmila,Sinnappurajar Praisoody,Al Julandani Dalila,Navickas Rokas,Griffin Helen,Ahuja Manisha,Grainger Angela,Livingstone Katie,Rice Gillian I.,Sutherland Fraser,Hayes Corinne,Parke Simon,Pang Lewis,Roderick Marion R.^ORCID,Slatter Mary,Crow Yanick,Ramanan Athimalaipet V.,Hambleton Sophie^ORCID

Funder

Wellcome Trust

MRC UK

European Research Council

Agence Nationale de la Recherche

Publisher

American Society for Clinical Investigation

Link

https://www.jci.org/articles/view/179193/files/pdf

Reference6 articles.

1. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients

2. Monogenic Lupus: A Developing Paradigm of Disease

3. TLR7 gain-of-function genetic variation causes human lupus

4. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

5. Association between toll-like receptor polymorphisms and systemic lupus erythematosus: a meta-analysis update

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Monogenic lupus – from gene to targeted therapy;Molecular and Cellular Pediatrics;2024-09-12

2. 2’-O-Methyl-guanosine 3-base RNA fragments mediate essential natural TLR7/8 antagonism;2024-07-25

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