{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T21:15:45Z","timestamp":1776978945870,"version":"3.51.4"},"reference-count":17,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,8,17]]},"abstract":"<jats:p>We report the case of a patient with <jats:italic>PIGT<\/jats:italic> mutations who experienced recurrent aseptic meningitis 121 times over 16 years before developing paroxysmal nocturnal haemoglobinuria (PNH). Each episode was preceded by urticaria and arthralgia. After developing PNH, haemolysis occurred prior to meningitis. Flow cytometry revealed deficiency of the glycophosphatidylinositol (GPI)-anchored complement regulatory proteins, CD59 and CD55, and he was diagnosed with PNH. All the symptoms disappeared on administering eculizumab, an anti-C5 antibody. We did not detect mutation in <jats:italic>PIGA<\/jats:italic>, which is regarded as the cause of PNH. However, we detected a germ-line mutation and a somatic microdeletion in chromosome 20q including <jats:italic>PIGT<\/jats:italic>; PIGT is essential for transferring GPI anchor to the precursors of CD59 and CD55, which play important roles in complement regulation. Loss of these proteins leads to complement overactivation, causing inflammatory symptoms, including recurrent meningitis. <jats:italic>PIGT<\/jats:italic> mutations should be considered a novel pathogenesis of recurrent meningitis of unknown aetiology.<\/jats:p>","DOI":"10.1136\/bcr-2018-225910","type":"journal-article","created":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T11:06:57Z","timestamp":1538046417000},"page":"bcr-2018-225910","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":14,"title":["Recurrent aseptic meningitis with <i>PIGT<\/i> mutations: a novel pathogenesis of recurrent meningitis successfully treated by eculizumab"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5760-4935","authenticated-orcid":false,"given":"Michi","family":"Kawamoto","sequence":"first","affiliation":[{"name":"Department of Neurology, Kobe City Medical Center General Hospital, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[{"name":"Research Institute for Microbial Disease, Osaka University, Suita, Japan"},{"name":"WPI Immunology Frontier Research Center, Osaka University, Suita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taroh","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Research Institute for Microbial Disease, Osaka University, Suita, Japan"},{"name":"WPI Immunology Frontier Research Center, Osaka University, Suita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuo","family":"Kohara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kobe City Medical Center General Hospital, Kobe, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,9,27]]},"reference":[{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.1","first-page":"657","article-title":"M\u00e9ningite endoth\u00e9lio-leucocytaire multir\u00e9currente b\u00e9nigne. Syndrome nouveau ou maladie nouvelle? (Documents cliniques) [Recurrent benign endothelio-leukocytic meningitis. A new syndrome or a new disease?","volume":"76","author":"Mollaret","year":"1944","journal-title":"Rev Neurol"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.2","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s11916-017-0635-7","article-title":"Recurrent meningitis","volume":"21","author":"Rosenberg","year":"2017","journal-title":"Curr Pain Headache Rep"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.3","first-page":"31","article-title":"Herpes simplex virus type 2-associated recurrent aseptic (Mollaret\u2019s) meningitis in genitourinary medicine clinic: a case report","volume":"7","author":"Abou-Foul","year":"2014","journal-title":"Int Med Case Rep J"},{"issue":"3 Suppl 77","key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.4","first-page":"127","article-title":"Is recurrent aseptic meningitis a manifestation of familial Mediterranean fever? A systematic review","volume":"31","author":"Capron","year":"2013","journal-title":"Clin Exp Rheumatol"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.5","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3185"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.6","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90250-T"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.7","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e328351c348"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.8","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-01-481499"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa061648"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-05-283564"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.11","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvn090"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.12","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.90.130"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng.653"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.14","doi-asserted-by":"publisher","DOI":"10.1038\/nm1410"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.15","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10048-014-0408-y","article-title":"Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3","volume":"15","author":"Nakashima","year":"2014","journal-title":"Neurogenetics"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.16","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1002\/ana.24770","article-title":"Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation","volume":"80","author":"Mevorach","year":"2016","journal-title":"Ann Neurol"},{"key":"2025082803182329000_2018.sep27_1.bcr-2018-225910.17","doi-asserted-by":"publisher","DOI":"10.1532\/IJH97.07029"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-225910","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:18:34Z","timestamp":1756376314000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-225910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,27]]},"references-count":17,"alternative-id":["10.1136\/bcr-2018-225910"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-225910","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,27]]}}}