A20 haploinsufficiency (HA20): Clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
Annals of Rheumatic Diseases Apr 17, 2018
Aeschlimann FA, et al. - Researchers sought to describe the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). The common manifestation of the disease was seen in early childhood (range: First week of life to 29 years of age). Results demonstrated the early-onset recurrent oral, genital and/or gastrointestinal ulcers to be the hallmark feature of HA20. Authors noted a high variation in the frequency and intensity of other clinical manifestations. They suggested the treatment regimens to be based on disease severity, and cytokine inhibitors were often required to control relapses.
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