{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:45:21Z","timestamp":1787028321749,"version":"build-2736575974"},"reference-count":45,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T00:00:00Z","timestamp":1611792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Mevalonate kinase deficiency (MKD) is a rare autoinflammatory genetic disorder characterized by recurrent fever attacks and systemic inflammation with potentially severe complications. Although it is recognized that the lack of protein prenylation consequent to mevalonate pathway blockade drives IL1\u03b2 hypersecretion, and hence autoinflammation, MKD pathogenesis and the molecular mechanisms underlaying most of its clinical manifestations are still largely unknown. In this study, we performed a comprehensive bioinformatic analysis of a microarray dataset of MKD patients, using gene ontology and Ingenuity Pathway Analysis (IPA) tools, in order to identify the most significant differentially expressed genes and infer their predicted relationships into biological processes, pathways, and networks. We found that hematopoiesis linked biological functions and pathways are predominant in the gene ontology of differentially expressed genes in MKD, in line with the observed clinical feature of anemia. We also provided novel information about the molecular mechanisms at the basis of the hematological abnormalities observed, that are linked to the chronic inflammation and to defective prenylation. Considering the broad and unspecific spectrum of MKD clinical manifestations and the difficulty in its diagnosis, a better understanding of MKD molecular bases could be translated to the clinical level to facilitate diagnosis, and improve management and therapy.<\/jats:p>","DOI":"10.3390\/ijerph18031170","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T22:02:01Z","timestamp":1611871321000},"page":"1170","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1383-7929","authenticated-orcid":false,"given":"Simona","family":"Pisanti","sequence":"first","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, Via Salvatore Allende, 84081 Baronissi (SA), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0600-8559","authenticated-orcid":false,"given":"Marianna","family":"Citro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, Via Salvatore Allende, 84081 Baronissi (SA), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0578-4812","authenticated-orcid":false,"given":"Mario","family":"Abate","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, Via Salvatore Allende, 84081 Baronissi (SA), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Caputo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, Via Salvatore Allende, 84081 Baronissi (SA), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6524-6752","authenticated-orcid":false,"given":"Rosanna","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u2018Scuola Medica Salernitana\u2019, University of Salerno, Via Salvatore Allende, 84081 Baronissi (SA), Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2147\/TACG.S93933","article-title":"Mevalonate kinase deficiency: Current perspectives","volume":"9","author":"Favier","year":"2016","journal-title":"Appl. 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