A Novel RELA Truncating Mutation in a Familial Behçet’s Disease–like Mucocutaneous Ulcerative Condition-Reference-Cited by-同舟云学术

A Novel RELA Truncating Mutation in a Familial Behçet’s Disease–like Mucocutaneous Ulcerative Condition

Published:2021-02-15 Issue:3 Volume:73 Page:490-497
ISSN:2326-5191
Container-title:Arthritis & Rheumatology
language:en
Short-container-title:Arthritis Rheumatol

Author:

Adeeb Fahd¹,Dorris Emma R.²^ORCID,Morgan Niamh E.³,Lawless Dylan⁴,Maqsood Aqeel¹,Ng Wan Lin¹,Killeen Orla⁵,Cummins Eoin P.²,Taylor Cormac T.²,Savic Sinisa⁴^ORCID,Wilson Anthony G.²^ORCID,Fraser Alexander⁶

Affiliation:

1. University Hospital Limerick Limerick Ireland

2. University College Dublin Dublin Ireland

3. University College Dublin National Children’s Research Centre, and Our Lady’s Children’s Hospital Crumlin Dublin Ireland

4. NIHR Leeds Institute of Rheumatic and Musculoskeletal Medicine and St James’s University Hospital Leeds UK

5. National Children’s Research Centre and Our Lady’s Children’s Hospital Crumlin Dublin Ireland

6. University Hospital Limerick and University of Limerick School of Medicine Limerick Ireland

Funder

Science Foundation Ireland

National Children's Research Centre

Horizon 2020 Framework Programme

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/art.41531

Reference16 articles.

1. Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility

2. NF-κB signaling in inflammation

3. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

4. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

5. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

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