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
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Elhossini RM et al.
Molecular Genetics and Genomics : Mgg, 2023
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
Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W et al.
Frontiers in Immunology, 2022
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
Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.
Sacri AS et al.
Pediatric Blood & Cancer, 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
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.
Chu K et al.
Bone, 2005
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Waguespack SG et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
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