Autoinflammatory & rare systemic diseases
Clinical phenotype and laboratory markers in patients affected by haploinsufficiency of A20 (HA20): a case series from two Italian centres
Authors' conclusion
HA20 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.
Study context
- Population
- Patients with HA20 (heterozygous TNFAIP3 variants, ACMG class 4–5) from six families, two Italian centres6 families
- Participants
- 17 patients
- Outcome
- Clinical manifestations (prevalence)
Methodological detailstwo-centre
- Two-centre
Main finding
As reported in the abstract
- Oral aphthosis
- 88%
- Recurrent fever
- 53%
- Gastrointestinal inflammation
- 53%
- Autoimmunity
- 47%
- Genital ulcers
- 47%
- Neuropsychiatric symptoms
- 41%
- Arthritis/tenosynovitis
- 18%
- Skin inflammation
- 12%
Observational data: associations, not effects.
Further findings
Onset before 5 years of age and lifetime neuropsychiatric symptoms
- Higher prevalence of neuropsychiatric symptoms with onset <5 years
- P = 0.004
- Arthritis more common with later onset
Median age at onset by type of clinical manifestation
- Differed significantly by manifestation type
- P < 0.001
- Kruskal-Wallis test
Type 1 interferon (IFN) signature (IFN signature (IS)) levels by disease activity
- Higher IS levels in active disease
- P < 0.01
Original publication
Clinical phenotype and laboratory markers in patients affected by haploinsufficiency of A20 (HA20): a case series from two Italian centres. RMD Open. Published 13 May 2026. doi:10.
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