The following is a summary of “A20 Haploinsufficiency: A Systematic Review of 177 Cases,” published in the June 2024 issue of Dermatology by Elhani, et al.

A20 haploinsufficiency is an autoinflammatory disease resulting from defective inactivation of the NF-κB pathway. For a study, researchers conducted a systematic literature review of articles reporting patients with TNFAIP3 sequence variants from 2016 to August 2023, following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines.

Data from 177 patients, including 108 women, from 65 articles were retrieved. The principal features identified were mucosal ulcers (n = 129), fever (n = 93), gastrointestinal symptoms (n = 81), skin manifestations (n = 76), autoimmunity (n = 61), including thyroiditis (n = 25) and lupus (n = 16), and joint involvement (n = 54). About 5 patients had died at the time of publication. Elevated CRP levels during flares were observed in 54 of 63 patients, with a median of 51 mg/l. Treatment modalities included corticosteroids and nonsteroidal anti-inflammatory drugs (n = 32), TNF blockers (n = 29), colchicine (n = 28), and methotrexate (n = 14). TNFAIP3 variants predominantly impacted the ovarian tumor domain in 92 cases and the Zinc finger domain in 68 cases. Geographic origin, reported sex, and variant type significantly influenced the phenotype.

Understanding the wide range of phenotypes associated with A20 haploinsufficiency could aid in the diagnostic process. However, further research was needed to elucidate the pathogenesis and optimize treatment strategies to improve outcomes for patients with A20 haploinsufficiency.

Reference: sciencedirect.com/science/article/abs/pii/S0022202X23031949