Paediatric-onset haploinsufficiency of A20 associated with a novel and de novo nonsense TNFAIP3 mutation

Rheumatology (Oxford). 2020 Nov 1;59(11):e85-e87. doi: 10.1093/rheumatology/keaa206.

Authors

Yushiro Endo¹, Yasutomo Funakoshi², Tomohiro Koga¹, Kaori Furukawa¹, Daisuke Sasaki³, Kiyonori Miura⁴, Katsunori Yanagihara³, Hiroyuki Moriuchi², Atsushi Kawakami¹

Affiliations

¹ Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences.
² Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences.
³ Department of Laboratory Medicine.
⁴ Department of Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, Japan.

PMID: 32417885
DOI: 10.1093/rheumatology/keaa206

No abstract available

Publication types

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

MeSH terms

Age of Onset
Child, Preschool
Codon, Nonsense*
Female
Haploinsufficiency / genetics*
Humans
Pedigree
Tumor Necrosis Factor alpha-Induced Protein 3 / genetics*

Substances

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