{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T16:08:34Z","timestamp":1772035714533,"version":"3.50.1"},"reference-count":50,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"unspecified","delay-in-days":55,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2025,12,26]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Multicentre, 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 (\n                      <jats:italic>TNFAIP3<\/jats:italic>\n                      ) mutation, were included.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Median age at symptom onset was 3 years (range: 1\u2009month\u201317 years) with a median diagnostic delay of 9.7 years (range: 1\u201343 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\n                      <jats:italic>TNFAIP3<\/jats:italic>\n                      variants were identified. Colchicine was effective as monotherapy in 40%. TNF-inhibitors showed the highest efficacy (adalimumab 60%, infliximab 100%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>HA20 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/rmdopen-2025-006379","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T15:20:18Z","timestamp":1772032818000},"page":"e006379","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6796-6385","authenticated-orcid":false,"given":"Federica","family":"Anselmi","sequence":"first","affiliation":[{"name":"Service de rhumatologie p\u00e9diatrique, Centre de r\u00e9f\u00e9rence des maladies auto-inflammatoires de l\u2019enfant, H\u00f4pital Bic\u00eatre, AP-HP, Universit\u00e9 Paris-Saclay, Bic\u00eatre, 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\u00cele-de-France, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrien","family":"Schvartz","sequence":"additional","affiliation":[{"name":"Laboratory of Inflammatory Responses and Transcriptomic Networks in Diseases, Imagine Institute, Paris, \u00cele-de-France, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Desdoits","sequence":"additional","affiliation":[{"name":"CHU Caen, Caen, Basse-Normandie, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Charlotte","family":"Besse","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Clinical Immunology, Regional University Hospital Centre Tours Bretonneau Hospital, Tours, Centre-Val de Loire, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Jesiorski","sequence":"additional","affiliation":[{"name":"Paediatric Infectious and Immunology Unit, University Hospital of 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