{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T14:35:52Z","timestamp":1781620552359,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Complement factor B (FB) deficiency is an extremely rare alternative pathway (AP) defect predisposing to invasive infections, with only three families reported to date. We investigated a 14\u2010year\u2010old girl who developed\n                    <jats:italic>Neisseria meningitidis<\/jats:italic>\n                    serogroup Y meningitis complicated by bacteremia and cerebral venous sinus thrombosis. Complement function was assessed by TCA and AP50 hemolytic assay, FB quantification, and functional reconstitution with purified proteins. Genetic analysis of\n                    <jats:italic>CFB<\/jats:italic>\n                    was performed by next\u2010generation sequencing. TCA, C3, and C4 were normal, whereas AP50 was undetectable. Plasma FB concentration was reduced. Reconstitution with purified FB, but not FD, restored AP\u00a0activity, confirming FB deficiency. Patient plasma failed to support C3b\u2010dependent hemolysis. Sequencing revealed compound heterozygosity for two missense variants in\n                    <jats:italic>CFB<\/jats:italic>\n                    : p.Gly396Arg in the vWFA domain (previously described) and p.Gln713Arg, a novel substitution in the serine protease domain near the catalytic Ser699. Both were classified as likely pathogenic according to ACMG criteria. This report represents the third genetically confirmed case of complete FB deficiency and the first involving a serine protease domain variant. It underscores the diagnostic value of combined quantitative and functional complement assays and highlights infectious risks relevant to patients treated with emerging FB inhibitors.\n                  <\/jats:p>","DOI":"10.1002\/eji.70148","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T04:17:58Z","timestamp":1770697078000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Meningococcal Serogroup Y Meningitis Reveals Inborn Factor B Deficiency"],"prefix":"10.1002","volume":"56","author":[{"given":"Camille","family":"Bougeard","sequence":"first","affiliation":[{"name":"Department of Immunology, Assistance Publique\u2010 H\u00f4pitaux de Paris (AP\u2010HP) Georges Pompidou European Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e9onore","family":"Eskander","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Paris\u2010Saclay University, AP\u2010HP, Bic\u00eatre Hospital  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Vieira","family":"Martins","sequence":"additional","affiliation":[{"name":"Department of Immunology, Assistance Publique\u2010 H\u00f4pitaux de Paris (AP\u2010HP) Georges Pompidou European Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3923-6972","authenticated-orcid":false,"given":"Joan","family":"Bitan","sequence":"additional","affiliation":[{"name":"Department of Immunology, Assistance Publique\u2010 H\u00f4pitaux de Paris (AP\u2010HP) Georges Pompidou European Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Roquigny","sequence":"additional","affiliation":[{"name":"Department of Immunology, Assistance Publique\u2010 H\u00f4pitaux de Paris (AP\u2010HP) Georges Pompidou European Hospital  Paris France"},{"name":"Inflammation, Complement and Cancer Team, Cordeliers Research Center Institut National de La Sant\u00e9 et De La Recherche M\u00e9dicale (INSERM) Unit\u00e9 Mixte De Recherche UMRS1138  Paris France"},{"name":"COMET \u00ab Complement Expertise and Therapeutics \u00bb F\u00e9d\u00e9ration Hospitalo\u2010Universitaire  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Kyheng","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Paris\u2010Saclay University, AP\u2010HP, Bic\u00eatre Hospital  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamazoust","family":"Guiddir","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Paris\u2010Saclay University, AP\u2010HP, Bic\u00eatre Hospital  Le Kremlin Bic\u00eatre 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