Evidence map›Paper›PMID 42128528›Full record

ArticleRMD open2026

Clinical phenotype and laboratory markers in patients affected by haploinsufficiency of A20 (HA20): a case series from two Italian centres.

Laura De Nardi, Silvia Federici, Eleonora De Martino, Camilla Celani, Martina Girardelli, Valentina Matteo, Ivan Caiello, Chiara Passarelli, Chiara Perrone, Giusi Prencipe and 7 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

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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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

17 authors.

Laura De NardiDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.ORCID 0000-0002-8141-3389
Silvia FedericiRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Eleonora De MartinoInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Camilla CelaniRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Martina GirardelliInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Valentina MatteoRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Ivan CaielloRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Chiara PassarelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Chiara PerroneLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Giusi PrencipeRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Alessandra TesserInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Alessia PinInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Serena PastoreInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Matteo BramuzzoInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Fabrizio De BenedettiRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.
Alberto TommasiniInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy alberto.tommasini@burlo.trieste.it.
Antonella InsalacoRheumatology Unit, Bambino Gesù Children's Hospital, IRCCS, ERN-RITA Center, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHaploinsufficiency of A20 (HA20) is a monogenic disease caused by heterozygous

objectivesTo describe a cohort of patients with HA20 from two centres, evaluating age-related clinical variability; to assess the prevalence of neuropsychiatric symptoms; to explore the inflammatory profile of the patients, including interferon (IFN)-γ-inducible chemokines (CXCL9/10) and type 1 IFN signature (IS), as well as the therapies administered.

methodsClinical and laboratory data of 17 subjects from six families heterozygous for

resultsClinical manifestations included oral aphthosis (88%), recurrent fever (53%), gastrointestinal inflammation (53%), autoimmunity (47%), genital ulcers (47%), neuropsychiatric symptoms (41%), arthritis/tenosynovitis (18%) and skin inflammation (12%). Disease onset before 5 years of age was associated with a higher prevalence of neuropsychiatric symptoms during lifetime (p=0.004), whereas arthritis was more common in patients with later onset. The median age at onset differed significantly according to the type of clinical manifestation (p<0.001). Higher IS levels were found in patients with active disease (p<0.01).

conclusionsHA20 shows marked clinical heterogeneity both between and within families. Clinical manifestations appear age-related and early disease onset was associated with increased neuropsychiatric involvement lifetime. Finally, type 1 IS may represent a potential biomarker of disease activity in HA20.

Indexed as

BiomarkersHaploinsufficiencyPhenotypeTumor Necrosis Factor alpha-Induced Protein 3AdolescentAdultAge of OnsetChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansItalyMaleMiddle AgedBiomarkersTNFAIP3 protein, humanTumor Necrosis Factor alpha-Induced Protein 3Autoimmune DiseasesAutoimmunityBiomarkersHereditary Autoinflammatory DiseasesInflammation

Identifiers

PMID42128528
PMCPMC13182329

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.