Five children with haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene

HA20 is a rare monogenic early-onset auto-inflammatory disease. It can present with a variety of clinical manifestations, including Behcet disease, inflammatory bowel disease, lupus-like syndrome and periodic fever syndrome. Whole-exome sequencing should be actively considered for children who present with early-onset symptoms or features suggestive of autoimmune diseases.