Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

Nic Robertson; Aakash Joshi; Francesca Ritchie; Ina Schim van der Loeff; David Royan; Angela L Duker; Gillian I Rice; Michael B Bober; Sahar Mansour; David I Campbell; Mary Brennan; Lindsay Brown; Laura Jones; Eleri Williams; Andrew P Jackson; Yanick J Crow

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

Nic Robertson
, Aakash Joshi
, Francesca Ritchie
, Ina Schim van der Loeff
, David Royan
, Angela L Duker
, Gillian I Rice
, Michael B Bober
, Sahar Mansour
, David I Campbell
, Mary Brennan
, Lindsay Brown
, Laura Jones
, Eleri Williams
, Andrew P Jackson
, Yanick J Crow

Nemours Children's Hospital, Delaware

University of Edinburgh
Epsom and St. Helier University Hospitals NHS Trust
Royal Hospital for Children and Young People
Royal Victoria Infirmary Hospital
University of Manchester
Nemours Children's Hospital/Nemours Children's Health System

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

4 Scopus citations

Abstract

Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.

Original language	English
Article number	e202451518
Pages (from-to)	e202451518
Journal	European Journal of Immunology
Volume	55
Issue number	5
State	Published - May 2025

Keywords

Humans
Interferon Type I/metabolism
Signal Transduction/genetics
Chilblains/genetics
Mutation
Immunity, Innate/genetics
Female
Male
RNA, Untranslated/genetics

Cite this

Robertson, N., Joshi, A., Ritchie, F., Schim van der Loeff, I., Royan, D., Duker, A. L., Rice, G. I., Bober, M. B., Mansour, S., Campbell, D. I., Brennan, M., Brown, L., Jones, L., Williams, E., Jackson, A. P., & Crow, Y. J. (2025). Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling. European Journal of Immunology, 55(5), e202451518. Article e202451518.

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title = "Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling",

abstract = "Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.",

keywords = "Humans, Interferon Type I/metabolism, Signal Transduction/genetics, Chilblains/genetics, Mutation, Immunity, Innate/genetics, Female, Male, RNA, Untranslated/genetics",

author = "Nic Robertson and Aakash Joshi and Francesca Ritchie and \{Schim van der Loeff\}, Ina and David Royan and Duker, \{Angela L\} and Rice, \{Gillian I\} and Bober, \{Michael B\} and Sahar Mansour and Campbell, \{David I\} and Mary Brennan and Lindsay Brown and Laura Jones and Eleri Williams and Jackson, \{Andrew P\} and Crow, \{Yanick J\}",

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year = "2025",

month = may,

language = "English",

volume = "55",

pages = "e202451518",

journal = "European Journal of Immunology",

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Robertson, N, Joshi, A, Ritchie, F, Schim van der Loeff, I, Royan, D, Duker, AL, Rice, GI, Bober, MB, Mansour, S, Campbell, DI, Brennan, M, Brown, L, Jones, L, Williams, E, Jackson, AP & Crow, YJ 2025, 'Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling', European Journal of Immunology, vol. 55, no. 5, e202451518, pp. e202451518.

TY - JOUR

T1 - Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

AU - Robertson, Nic

AU - Joshi, Aakash

AU - Ritchie, Francesca

AU - Schim van der Loeff, Ina

AU - Royan, David

AU - Duker, Angela L

AU - Rice, Gillian I

AU - Bober, Michael B

AU - Mansour, Sahar

AU - Campbell, David I

AU - Brennan, Mary

AU - Brown, Lindsay

AU - Jones, Laura

AU - Williams, Eleri

AU - Jackson, Andrew P

AU - Crow, Yanick J

PY - 2025/5

Y1 - 2025/5

N2 - Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.

AB - Mutations in the non-coding RNA gene RNU4ATAC are associated with growth restriction and complications related to antibody deficiency. Here, we report that innate immune dysfunction is a previously unrecognised feature of this disorder. In particular, painful chilblain-like lesions are common in RNU4ATAC patients and are linked to dysregulated type I interferon signalling.

KW - Humans

KW - Interferon Type I/metabolism

KW - Signal Transduction/genetics

KW - Chilblains/genetics

KW - Mutation

KW - Immunity, Innate/genetics

KW - Female

KW - Male

KW - RNA, Untranslated/genetics

UR - https://www.scopus.com/pages/publications/105006566016

M3 - Article

C2 - 40415209

SN - 0014-2980

VL - 55

SP - e202451518

JO - European Journal of Immunology

JF - European Journal of Immunology

IS - 5

M1 - e202451518

ER -

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

Abstract

Keywords

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