Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)

Christopher J A Duncan; Emma Dinnigan; Rachel Theobald; Angela Grainger; Andrew J Skelton; Rafiqul Hussain; Joseph D P Willet; David J Swan; Jonathan Coxhead; Matthew F Thomas; Julian Thomas; Veena Zamvar; Mary A Slatter; Andrew J Cant; Karin R Engelhardt; Sophie Hambleton

doi:10.1136/annrheumdis-2016-210944

Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)

Ann Rheum Dis. 2018 May;77(5):783-786. doi: 10.1136/annrheumdis-2016-210944. Epub 2017 Jun 28.

Authors

Christopher J A Duncan^#¹, Emma Dinnigan^#¹, Rachel Theobald^#¹, Angela Grainger¹, Andrew J Skelton², Rafiqul Hussain³, Joseph D P Willet¹, David J Swan¹, Jonathan Coxhead³, Matthew F Thomas⁴, Julian Thomas⁵, Veena Zamvar⁶, Mary A Slatter⁷, Andrew J Cant⁷, Karin R Engelhardt¹, Sophie Hambleton^{1

7}

Affiliations

¹ Primary Immunodeficiency Group, Institute for Cellular Medicine, Newcastle University, UK.
² Bioinformatics Support Unit, Institute for Cellular Medicine, Newcastle University, UK.
³ Genomic Core Facility, Institute for Genetic Medicine, Newcastle University, UK.
⁴ Department of Paediatric Respiratory Medicine, Great North Children's Hospital, Royal Victoria Infirmary, UK.
⁵ Department of Paediatric Gastroenterology, Great North Children's Hospital, Royal Victoria Infirmary, UK.
⁶ Department of Paediatric Gastroenterology, Leeds General Infirmary, UK.
⁷ Department of Paediatric Immunology and Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.

^# Contributed equally.

No abstract available

Keywords: A20 haploinsufficiency; Complex autoimmunity; Immune homeostasis; Monogenic autoimmunity; NF-κB regulation; Primary immunodeficiency; TNF signalling.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autoimmune Diseases / genetics*
Humans
Loss of Function Mutation / genetics*
Loss of Heterozygosity / genetics*
Male
Tumor Necrosis Factor alpha-Induced Protein 3 / genetics*

Substances

TNFAIP3 protein, human
Tumor Necrosis Factor alpha-Induced Protein 3