Associated Papers
Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.
Natoli V et al.
Current Rheumatology Reports, 2025
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
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5.
Aylan Gelen S et al.
Journal of Pediatric Genetics, 2024
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
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B et al.
Rheumatology International, 2020
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
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