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

Jarmila Stremenova  Spegarova; Praisoody  Sinnappuraja; Dalila  Al Julandan; Rokas  Navickas; Helen  Griffin; Manisha  Ahuja; Angela Grainger; Katie Livingstone; Gillian I  Rice; Fraser Sutherland; Corinne  Hayes; Simon  Parke; Lewis Pang; Marion R  Roderic; Mary  Slatter; Yanick J Crow; Athimalaipet V Ramanan; Sophie Hambleton

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

Jarmila Stremenova Spegarova, Praisoody Sinnappuraja, Dalila Al Julandan, Rokas Navickas, Helen Griffin, Manisha Ahuja, Angela Grainger, Katie Livingstone, Gillian I Rice, Fraser Sutherland, Corinne Hayes, Simon Parke, Lewis Pang, Marion R Roderic, Mary Slatter, Yanick J Crow, Athimalaipet V Ramanan, Sophie Hambleton

Research output: Contribution to journal › Letter › peer-review

Original language	English
Journal	Journal of Clinical Investigation
Early online date	16 May 2024
Publication status	E-pub ahead of print - 16 May 2024

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TLR7 Research Letter with Fig1_Revised_Clean version_240423Accepted author manuscript, 14.9 MBLicence: Creative Commons: Attribution (CC-BY)
179193.1-20240516110221-covered-e0fd13ba177f913fd3156f593ead4cfdFinal published version, 330 KBLicence: Creative Commons: Attribution (CC-BY)

Genetic disorders of human neurological and immune function
Crow, Y.
1/04/23 → 31/03/28
Project: Research

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Spegarova, J. S., Sinnappuraja, P., Al Julandan, D., Navickas, R., Griffin, H., Ahuja, M., Grainger, A., Livingstone, K., Rice, G. I., Sutherland, F., Hayes, C., Parke, S., Pang, L., Roderic, M. R., Slatter, M., Crow, Y. J., Ramanan, A. V., & Hambleton, S. (2024). A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant. Journal of Clinical Investigation. Advance online publication.

@article{b1c329bb8fc94c8abfff21b617853f38,

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

author = "Spegarova, {Jarmila Stremenova} and Praisoody Sinnappuraja and {Al Julandan}, Dalila and Rokas Navickas and Helen Griffin and Manisha Ahuja and Angela Grainger and Katie Livingstone and Rice, {Gillian I} and Fraser Sutherland and Corinne Hayes and Simon Parke and Lewis Pang and Roderic, {Marion R} and Mary Slatter and Crow, {Yanick J} and Ramanan, {Athimalaipet V} and Sophie Hambleton",

year = "2024",

month = may,

day = "16",

language = "English",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "The American Society for Clinical Investigation",

}

TY - JOUR

T1 - A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

AU - Spegarova, Jarmila Stremenova

AU - Sinnappuraja, Praisoody

AU - Al Julandan, Dalila

AU - Navickas, Rokas

AU - Griffin, Helen

AU - Ahuja, Manisha

AU - Grainger, Angela

AU - Livingstone, Katie

AU - Rice, Gillian I

AU - Sutherland, Fraser

AU - Hayes, Corinne

AU - Parke, Simon

AU - Pang, Lewis

AU - Roderic, Marion R

AU - Slatter, Mary

AU - Crow, Yanick J

AU - Ramanan, Athimalaipet V

AU - Hambleton, Sophie

PY - 2024/5/16

Y1 - 2024/5/16

M3 - Letter

SN - 0021-9738

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

ER -

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

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Projects

Genetic disorders of human neurological and immune function

Cite this