Article

Spondyloenchondrodysplasia with immune dysregulation: Report of a novel ACP-5 gene missense mutation and use of sirolimus.

2024-01-31

Abstract excerpt

Spondyloenchondrodysplasia with immune dysregulation(SPENCDI) is a rare genetic disorder resulting from suboptimal Tartrate Resistant Acid Phosphatase (TRAP) activity which key regulates functioning of immune effector cells and osteoclasts. This leads to autoimmune cytopenias along with skeletal system and neurological manifestations. Refractory autoimmune haemolysis is frequently encountered and manifest at a you...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a55f9734-9c74-52de-a11c-03ffe2fc7126
DOI: 10.22541/au.170670042.26321275/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Spondyloenchondrodysplasia with immune dysregulation: Report of a novel ACP-5 gene missense mutation and use of sirolimus.DOI 10.22541/au.170670042.26321275/v1Read

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.Semantic proximity Read

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.Semantic proximity Read

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.Semantic proximity Read

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.Semantic proximity Read

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.Semantic proximity Read

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory DiseasesSemantic proximity Read

Inborn errors of immunity associated with characteristic phenotypes.Semantic proximity Read

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.Semantic proximity Read

Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus.Semantic proximity Read

VEXAS within the spectrum of rheumatologic disease.Semantic proximity Read

Genetic Variants Associated with Inborn Errors of Immunity in Pediatric Immune ThrombocytopeniaSemantic proximity Read

Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic TargetsSemantic proximity Read