Aeschlimann FA, et al. - Researchers, herein, focused on the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). They reported that hallmark feature of HA20 included early-onset recurrent oral, genital and/or gastrointestinal ulcers. A high variance was noted in the frequency and intensity of other clinical manifestations. Employment of disease severity-based treatment regimens was recommended. Frequently, the requirement of cytokine inhibitors for relapse control was realized.

Methods

•  Using standardised data collection forms, researchers gathered data for all cases from the initial publication, and additional cases identified through collaborations since.

Results

• This study included a total of 16 patients (13 female) from 7 families with a genetic diagnosis of HA20.
• Early childhood manifestation was commonly reported (range: first week of life to 29 years of age).
• The following were documented as the main clinical symptoms: recurrent oral, genital and/or gastrointestinal ulcers (16/16), musculoskeletal (9/16) and gastrointestinal complaints (9/16), cutaneous lesions (8/16), episodic fever (7/16), and recurrent infections (7/16).
• A considerable variance was seen in clinical phenotypes, even within families.
• Data reported death of 1 patient.
• Relapsing-remitting disease course was most common.
• Elevated acute-phase reactants and fluctuating presence of various autoantibodies such as antinuclear antibodies (4/10 patients tested) and anti-dsDNA (2/5) were mentioned as the observed laboratory abnormalities.
• Non-specific chronic inflammation (6/12 patients tested) was evident in tissue biopsy of different sites, findings consistent with class V lupus nephritis in 1 patient, and pustules and normal results in 2 patients each.
• All patients were treated: colchicine was given to 4/16 and various immunosuppressive agents to 12/16.
• In addition, effective suppression of systemic inflammation by cytokine inhibitors was observed in 7/9 patients.