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Article

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

RMD open - 13 May 2026

De Nardi Laura, Federici Silvia, De Martino Eleonora, Celani Camilla, Girardelli Martina, Matteo Valentina, Caiello Ivan, Passarelli Chiara, Perrone Chiara, Prencipe Giusi, Tesser Alessandra, Pin Alessia, Pastore Serena, Bramuzzo Matteo, De Benedetti Fabrizio, Tommasini Alberto, Insalaco Antonella

Abstract excerpt

INTRODUCTION: Haploinsufficiency of A20 (HA20) is a monogenic disease caused by heterozygous TNFAIP3 variants. Despite the marked clinical variability, no genotype-phenotype correlation or validated laboratory biomarkers have been identified so far. Neurobehavioural abnormalities have been reported in murine models, but their prevalence in humans remains unclear. OBJECTIVES: To describe a cohort of patients with...

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Identifiers

PMID: 42128528
DOI: 10.1136/rmdopen-2026-006763
PMCID: PMC13182329

Genes

CXCL9
TNFAIP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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