{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:28:13Z","timestamp":1793701693909,"version":"4.5.1"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32 GM136554"],"award-info":[{"award-number":["T32 GM136554"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["1P50HD103555"],"award-info":[{"award-number":["1P50HD103555"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013669","name":"Ionis Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000862","name":"Doris Duke Charitable Foundation","doi-asserted-by":"publisher","award":["2023\u20100235"],"award-info":[{"award-number":["2023\u20100235"]}],"id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23 NS125126\u201001A1"],"award-info":[{"award-number":["K23 NS125126\u201001A1"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplication syndrome (MDS) is a rare neurogenetic disorder characterized by neurodevelopmental delay, epilepsy, gastrointestinal dysfunction, and frequent infections. The broader spectrum of immune dysregulation remains poorly understood. We retrospectively reviewed four MDS patients with recurrent sterile polyserositis across multiple centers, analyzing clinical presentation, laboratory findings, treatment responses, and outcomes. All patients developed recurrent pleural and\/or pericardial effusions of unclear etiology, with systemic inflammation (leukocytosis, elevated C\u2010reactive protein, hyperferritinemia in some cases). Extensive workups were unrevealing. Patients also demonstrated evidence of immune dysregulation, including hypogammaglobulinemia, altered T\u2010 and B\u2010cell populations, and abnormal immunoglobulin profiles. Effusions persisted despite antimicrobials and drainage, but resolved with immune\u2010directed therapies. Earlier immunomodulatory therapy enabled faster recovery and reduced morbidity. One patient achieved sustained remission without recurrence with long\u2010term immunomodulatory treatment. We identify recurrent sterile polyserositis as a previously unrecognized inflammatory manifestation of MDS, suggestive of\u00a0an autoinflammatory mechanism given the systemic hyperinflammation, absence of infectious or oncogenic causes, and responsiveness to immunomodulatory therapy. Our findings highlight the importance of early immunophenotyping and targeted immunomodulation. Prospective studies are needed to define the prevalence, biology, and optimal management of this emerging inflammatory phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.70238","type":"journal-article","created":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T07:03:05Z","timestamp":1787900585000},"page":"709-715","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in\n                    <scp>MECP2<\/scp>\n                    Duplication Syndrome"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8417-2689","authenticated-orcid":false,"given":"Danielle","family":"Mendonca","sequence":"first","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"},{"name":"Section of Neurology and Developmental Neuroscience, Department 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Pediatrics University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0127-7322","authenticated-orcid":false,"given":"Bernhard","family":"Suter","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"},{"name":"Section of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjana","family":"Maletic\u2010Savatic","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"},{"name":"Section of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Neuroscience Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Muscal","sequence":"additional","affiliation":[{"name":"Section of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Pediatrics, Division of Rheumatology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5788-0270","authenticated-orcid":false,"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"},{"name":"Section of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas 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