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Published in: Journal of Clinical Immunology 3/2016

Open Access 01-04-2016 | Original Article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Authors: Tracy A. Briggs, Gillian I. Rice, Navid Adib, Lesley Ades, Stephane Barete, Kannan Baskar, Veronique Baudouin, Ayse N. Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Guven, Sébastien Heritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnes Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revencu, Sabine Scholl-Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader-Meunier, Yanick J. Crow

Published in: Journal of Clinical Immunology | Issue 3/2016

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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.
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Metadata
Title
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Authors
Tracy A. Briggs
Gillian I. Rice
Navid Adib
Lesley Ades
Stephane Barete
Kannan Baskar
Veronique Baudouin
Ayse N. Cebeci
Philippe Clapuyt
David Coman
Lien De Somer
Yael Finezilber
Moshe Frydman
Ayla Guven
Sébastien Heritier
Daniela Karall
Muralidhar L. Kulkarni
Pierre Lebon
David Levitt
Martine Le Merrer
Agnes Linglart
John H. Livingston
Vincent Navarro
Ericka Okenfuss
Anne Puel
Nicole Revencu
Sabine Scholl-Bürgi
Marina Vivarelli
Carine Wouters
Brigitte Bader-Meunier
Yanick J. Crow
Publication date
01-04-2016
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0252-y

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Journal of Clinical Immunology 3/2016 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.