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Article

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Frontiers in immunology - 1 Jan 2026

Mu Huilin, Liu Li, Chen Zongwen, Chen Ran, Liu Xin, Wu Junfeng, Yang Xi, Tang Xuemei, Zhou Lina, Jia Yanjun, Patra Pratap Kumar, Wani Nisar Ahmad, Gupta Saniya, Zhao Xiaodong, Banday Aaqib Zaffar, An Yunfei

Abstract excerpt

Background: Spondyloenchondrodysplasia with immune dysregulation (SPENCD) is a rare autosomal recessive disorder caused by biallelic ACP5 mutations and is characterized by skeletal dysplasia, neurological involvement, and immune dysregulation. According to the latest International Union of Immunological Societies (IUIS) classification, SPENCD is categorized as an inborn error of immunity within the...

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Identifiers

PMID: 41993173
DOI: 10.3389/fimmu.2026.1788476
PMCID: PMC13079001

Genes

ACP5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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