Jul 2026
A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.
An upregulated interferon signature was revealed, and monocytes were identified as a major cellular source of inflammation in patients with SPENCDI, expanding the genetic and clinical spectrum of ACP5 deficiency.
Shiling Zhong, Shuang-Yue Ma, Y. El Chazli et al.
· Arthritis & Rheumatology · 0 citations