incrementalTreatment update

Pediatric HUVS: rituximab most effective in long-term follow-up

Hypocomplementemic Urticarial Vasculitis Syndrome →

Summary

Özen Taş et al. (2025) reported 20-year follow-up of two siblings with DNASE1L3-mutant HUVS. Rituximab proved the most effective long-term treatment. Renal involvement was present in 82% of pediatric HUVS patients in their literature review.

Related treatments

RituximabAnti-CD20 monoclonal antibody; depletes B cells
3rd linePromising in refractory cases

Related genes

DNASE1L3c.289_290delAC (frameshift)
First identified genetic cause of familial HUVS. Homozygous frameshift mutation causes complete loss of endonuclease activity via nonsense-mediated mRNA decay. Impairs clearance of extracellular chromatin from apoptotic cells.
DNASE1L3c.320+4delAGTA (splice-site)
Second identified DNASE1L3 mutation in an unrelated HUVS family. Causes exon skipping and abolished endonuclease activity as demonstrated by plasmid nicking assay.
DNASE1L3c.572A>G, p.Asn191Ser
Novel variant that does not affect enzyme production but impairs secretion. DNASE1L3 191S protein is overexpressed intracellularly but absent in supernatant, demonstrating a distinct loss-of-function mechanism.

Source

Grade Ccase series

Treatment and long-term follow-up of pediatric patients with hypocomplementemic urticarial vasculitis syndrome (HUVS): a case-based review

Özen Taş, Aydın F, Özçakar ZB · Clin Rheumatol · 2025

  • •Long-term follow-up of two DNASE1L3-mutant siblings over 20 years
  • •Rituximab most effective long-term treatment
  • •Renal involvement in 82% of pediatric HUVS patients
DetailsDOI ↗

More from Hypocomplementemic Urticarial Vasculitis Syndrome

incrementalTreatment update

JAK inhibition shows partial response in DNASE1L3-deficient HUVS

incrementalNew research

Novel DNASE1L3 variant in Emirati families demonstrates secretion defect mechanism

incrementalepidemiology

Systematic review estimates HUVS prevalence at fewer than 1 per million

incrementalnew treatment

Omalizumab reported effective for urticarial symptoms in select HUVS patients

ID: hypocomplementemic-urticarial-vasculitis-syndrome-update-3Type: treatment_updateImpact: incremental