Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS).
DOI:
https://doi.org/10.20344/amp.1107Abstract
Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic fever since she was 8 months old. She had high serum IgD levels, and a molecular study of the mevalonate kinase gene was performed. A compound heterozygote was found for two mutations: V377I and T237S. This last mutation had not been observed before.We analyse the clinical features that made us think on HIDS as a possible diagnosis, and we highlight the features that are important for the differential diagnosis between HIDS and other periodic fevers.HIDS is a possible diagnosis for patients with periodic fever, even in Portugal.Downloads
Downloads
How to Cite
Issue
Section
License
All the articles published in the AMP are open access and comply with the requirements of funding agencies or academic institutions. The AMP is governed by the terms of the Creative Commons ‘Attribution – Non-Commercial Use - (CC-BY-NC)’ license, regarding the use by third parties.
It is the author’s responsibility to obtain approval for the reproduction of figures, tables, etc. from other publications.
Upon acceptance of an article for publication, the authors will be asked to complete the ICMJE “Copyright Liability and Copyright Sharing Statement “(http://www.actamedicaportuguesa.com/info/AMP-NormasPublicacao.pdf) and the “Declaration of Potential Conflicts of Interest” (http:// www.icmje.org/conflicts-of-interest). An e-mail will be sent to the corresponding author to acknowledge receipt of the manuscript.
After publication, the authors are authorised to make their articles available in repositories of their institutions of origin, as long as they always mention where they were published and according to the Creative Commons license.
