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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Abstract：

PURPOSE:Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. METHODS:We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. RESULTS:We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. CONCLUSIONS:Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Briggs TA,Rice GI,Adib N,Ades L,Barete S,Baskar K,Baudouin V,Cebeci AN,Clapuyt P,Coman D,De Somer L,Finezilber Y,Frydman M,Guven A,Heritier S,Karall D,Kulkarni ML,Lebon P,Levitt D,Le Merrer M,Linglart A,Livingst

doi

10.1007/s10875-016-0252-y

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

220-34

issue

eissn

0271-9142

issn

1573-2592

pii

10.1007/s10875-016-0252-y

journal_volume

pub_type

杂志文章,多中心研究

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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.