Autoinflammatory & rare systemic diseases
A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency
Authors' conclusion
This study expanded the genetic and clinical spectrum of ACP5 deficiency. An up-regulated IFN signature was revealed, and monocytes were identified as a major cellular source of inflammation.
Study context
- Population
- Patients with SPENCDI (ACP5 deficiency) from Egypt and China, integrated with previously reported casesnew cohort
- Participants
- 17 patients
- Outcome
- Genetic and clinical spectrum of ACP5 deficiency (SPENCDI): variants identified and clinical manifestations
Methodological detailswhole-exome sequencing, bulk and single-cell RNA sequencing
- Whole-exome sequencing
- Bulk and single-cell RNA sequencing
Main finding
As reported in the abstract
- Patients with ACP5 deficiency identified (Egypt and China)
- 17
- Novel pathogenic variants (A260D, L257P, G32D, K190Nfs*22, T305Nfs*12)
- 5
- Novel missense variants with loss of tartrate-resistant acid phosphatase (TRAP) activity
- 3
- Skeletal system involvement (most frequent)
- 32.31%
- Skeletal dysplasia
- 94.32%
- Short stature
- 81.82%
Observational data: associations, not effects.
Original publication
A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency. Arthritis Rheumatol. Published 16 July 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →