Associated Papers
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Wong CCY et al.
Journal of Human Immunity, 2025
A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.
Firat Senturk E et al.
Lupus, 2025
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.
Dri J et al.
Archivos Argentinos De Pediatria, 2024
Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Gernez Y et al.
Frontiers in Immunology, 2023
38347954 (PubMed )
Supplement: DataSheet_1.docx
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia.
Ramesh J et al.
Plos One, 2020
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
An J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA et al.
Journal of Clinical Immunology, 2016
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Lausch E et al.
Nature Genetics, 2011
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA et al.
Nature Genetics, 2011
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