Associated Papers
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
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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