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

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

doi:10.1172/JCI179193

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

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

Research output: Contribution to journal › Letter (Academic Journal)

17 Citations (Scopus)

Abstract

[no abstract]

Original language	English
Article number	e179193
Number of pages	3
Journal	Journal of Clinical Investigation
Volume	134
Issue number	13
DOIs	https://doi.org/10.1172/JCI179193
Publication status	Published - 16 May 2024

Keywords

Humans
Lupus Erythematosus, Systemic/genetics
Toll-Like Receptor 7/genetics
Infant
Gain of Function Mutation
Female
Male

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Stremenova Spegarova, J., Sinnappurajar, P., Al Julandani, D., Navickas, R., Griffin, H., Ahuja, M., Grainger, A., Livingstone, K., Rice, G. I., Sutherland, F., Hayes, C., Parke, S., Pang, L., Roderick, M. R., Slatter, M., Crow, Y., 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, 134(13), Article e179193. https://doi.org/10.1172/JCI179193

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

abstract = "[no abstract]",

keywords = "Humans, Lupus Erythematosus, Systemic/genetics, Toll-Like Receptor 7/genetics, Infant, Gain of Function Mutation, Female, Male",

author = "\{Stremenova Spegarova\}, Jarmila and Praisoody Sinnappurajar and \{Al Julandani\}, 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 Roderick, \{Marion R\} and Mary Slatter and Yanick Crow and Ramanan, \{Athimalaipet V\} and Sophie Hambleton",

year = "2024",

month = may,

day = "16",

doi = "10.1172/JCI179193",

language = "English",

volume = "134",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "American Society for Clinical Investigation",

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}

Stremenova Spegarova, J, Sinnappurajar, P, Al Julandani, D, Navickas, R, Griffin, H, Ahuja, M, Grainger, A, Livingstone, K, Rice, GI, Sutherland, F, Hayes, C, Parke, S, Pang, L, Roderick, MR, Slatter, M, Crow, Y, Ramanan, AV & Hambleton, S 2024, 'A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant', Journal of Clinical Investigation, vol. 134, no. 13, e179193. https://doi.org/10.1172/JCI179193

TY - JOUR

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

AU - Stremenova Spegarova, Jarmila

AU - Sinnappurajar, Praisoody

AU - Al Julandani, 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 - Roderick, Marion R

AU - Slatter, Mary

AU - Crow, Yanick

AU - Ramanan, Athimalaipet V

AU - Hambleton, Sophie

PY - 2024/5/16

Y1 - 2024/5/16

N2 - [no abstract]

AB - [no abstract]

KW - Humans

KW - Lupus Erythematosus, Systemic/genetics

KW - Toll-Like Receptor 7/genetics

KW - Infant

KW - Gain of Function Mutation

KW - Female

KW - Male

U2 - 10.1172/JCI179193

DO - 10.1172/JCI179193

M3 - Letter (Academic Journal)

C2 - 38753439

SN - 0021-9738

VL - 134

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 13

M1 - e179193

ER -

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

Abstract

Keywords

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