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

doi:10.1002/eji.202451518

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

^*Corresponding author for this work

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

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
Journal	European Journal of Immunology
DOIs	https://doi.org/10.1002/eji.202451518
Publication status	Published - 1 May 2025

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10.1002/eji.202451518Licence: Creative Commons: Attribution (CC-BY)

Eur J Immunol - 2025 - Robertson - Mutations in RNU4ATAC Are Associated With Chilblain‐Like Lesions and Enhanced Type IFinal published version, 2.21 MBLicence: Creative Commons: Attribution (CC-BY)

1 Finished
1 Active

Genetic disorders of human neurological and immune function
Crow, Y. (Principal Investigator)
1/04/23 → 31/03/28
Project: Research
MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation
Jackson, A. (Principal Investigator)
1/04/18 → 31/03/23
Project: Research

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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. https://doi.org/10.1002/eji.202451518

@article{841ef00398ce4235ac959166afa499c3,

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.",

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\}",

year = "2025",

month = may,

day = "1",

doi = "10.1002/eji.202451518",

language = "English",

journal = "European Journal of Immunology",

issn = "0014-2980",

publisher = "Wiley-VCH",

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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. https://doi.org/10.1002/eji.202451518

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 - 2025/5/1

Y1 - 2025/5/1

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.

U2 - 10.1002/eji.202451518

DO - 10.1002/eji.202451518

M3 - Article

SN - 0014-2980

JO - European Journal of Immunology

JF - European Journal of Immunology

ER -

Mutations in RNU4ATAC are associated with chilblain-like lesions and enhanced type I interferon signalling

Abstract

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Projects

Genetic disorders of human neurological and immune function

MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation

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