Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
Spondyloenchondrodysplasia (SPENCD) is a rare immuno-osseus disease due to biallelic mutations in <i>ACP5</i>, resulting in a loss of tartrate-resistant acid phosphatase (TRAP) activity and enhanced type I interferon signalling. While TRAP was identified in the 1950s, <i>ACP5</i> was cloned in the 1990s, an <i>Acp5</i> knockout mouse was reported in 1996, and >3,000 articles are retrievable on PubMed using the terms "tartrate-resistant acid phosphatase" + "TRAP", the immunopathology of SPENCD remains unclear. Here we describe the clinical phenotype and molecular architecture of SPENCD, review the biology of TRAP, and consider how TRAP deficiency leads to disturbed innate immunity.
Authors
- Alice Lepelley (ORCID: https://orcid.org/0000-0001-8656-7291)
- Yanick Joseph Crow (ORCID: https://orcid.org/0000-0001-7211-7564)
- Marie‐Louise Frémond (ORCID: https://orcid.org/0000-0002-2798-9141)
- Colin Stok (ORCID: https://orcid.org/0000-0003-4736-5130)
- Carolina Uggenti (ORCID: https://orcid.org/0000-0003-2673-5120)
- Callie C.Y. Wong
- Tifenn Wauquier
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Institut Necker Enfants Malades (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institute of Genetics and Cancer (GB)
- University of Edinburgh (GB)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-06-03
- DOI
- https://doi.org/10.70962/jhi.20250035
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Agence Nationale de la Recherche
- Medical Research Council
- H2020 European Research Council