ArticleRMD open2026
Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.
Article in RMD open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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13 authors.
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Abstract
objectiveTo describe the clinical, biological and genetic characteristics of paediatric-onset A20 haploinsufficiency (HA20) and to identify key clinical features that may guide early diagnosis and management.
methodsMulticentre, retrospective observational cohort study through the French national paediatric rheumatology network and national reference laboratories for genetic autoinflammatory diseases. 17 patients from 11 unrelated families, with disease onset before 18 years of age and carrying a tumour necrosis factor alpha-induced protein 3 (
resultsMedian age at symptom onset was 3 years (range: 1 month-17 years) with a median diagnostic delay of 9.7 years (range: 1-43 years). Boys had a significantly earlier onset and diagnosis than girls. The most common initial manifestations were oral ulcers (64.7%), fever (64.7%), abdominal pain (47.1%), arthralgia (35.3%) and skin eruption (17.6%). Genital ulcers occurred in 17.6% at onset but in 52.9% during follow-up. Gastrointestinal involvement was frequent (abdominal pain in 76.5% of patients and colitis in 35.3%). Other features included arthralgia (52.9%), arthritis (29.4%), skin eruption (41.2%), lymphadenopathy (35.3%), hepatomegaly (11.8%), headache (17.6%) and uveitis (5.9%). C reactive protein (CRP) levels were significantly higher during flares. Three novel
conclusionsHA20 should be suspected in children with fever and gastrointestinal inflammation, even in the absence of oral/genital ulcers. Early onset colitis, the distinctive morphology of mucosal ulcers and a positive family history for HA20 are particularly suggestive. Early genetic testing may enable prompt diagnosis and targeted therapy.
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