{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T12:54:30Z","timestamp":1777121670925,"version":"3.51.4"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,7,1]]},"abstract":"<jats:p>Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome responsible for fever, hepatosplenomegaly, cytopenia, and coagulopathy. Although presentation usually occurs in early infancy, antenatal presentation is extremely rare. To our knowledge, we are first to report genetically confirmed FHL in 2 consecutive siblings who presented with hydrops fetalis that led to spontaneous intrauterine death at 38 and 30 weeks of gestation. Because the diagnosis of FHL has important implications for genetic counseling, we suggest that FHL be considered in the differential diagnosis of nonimmune hydrops fetalis.<\/jats:p>","DOI":"10.1542\/peds.2010-0764","type":"journal-article","created":{"date-parts":[[2011,6,7]],"date-time":"2011-06-07T03:16:38Z","timestamp":1307416598000},"page":"e251-e254","source":"Crossref","is-referenced-by-count":27,"title":["Hemophagocytic Lymphohistiocytosis With Munc13-4 Mutation: A Cause of Recurrent Fatal Hydrops Fetalis"],"prefix":"10.1542","volume":"128","author":[{"given":"Elie","family":"Bechara","sequence":"first","affiliation":[{"name":"Institut d'H\u00e9matologie et d'Oncologie P\u00e9diatrique and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Dijoud","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospices Civils de Lyon, Universit\u00e9 Lyon I, Lyon, France; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"de Saint Basile","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 768, Universit\u00e9 Paris Descartes, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP) Centre d'Etudes des D\u00e9ficits Immunitaires (CEDI), H\u00f4pital Necker-Enfants Malades, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Institut d'H\u00e9matologie et d'Oncologie P\u00e9diatrique and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Pondarr\u00e9","sequence":"additional","affiliation":[{"name":"Institut d'H\u00e9matologie et d'Oncologie P\u00e9diatrique and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2011,7,1]]},"reference":[{"issue":"2","key":"2021120823593408600_B1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s00431-006-0258-1","article-title":"Familial and acquired hemophagocytic lymphohistiocytosis","volume":"166","author":"Janka","year":"2007","journal-title":"Eur J Pediatr"},{"issue":"5446","key":"2021120823593408600_B2","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1126\/science.286.5446.1957","article-title":"Perforin gene defects in familial hemophagocytic lymphohistiocytosis","volume":"286","author":"Stepp","year":"1999","journal-title":"Science"},{"issue":"6","key":"2021120823593408600_B3","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1093\/hmg\/ddi076","article-title":"Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11","volume":"14","author":"zur Stadt","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"4","key":"2021120823593408600_B4","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2009.09.005","article-title":"Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11","volume":"85","author":"zur Stadt","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2021120823593408600_B5","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0092-8674(03)00855-9","article-title":"Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)","volume":"115","author":"Feldmann","year":"2003","journal-title":"Cell"},{"issue":"2","key":"2021120823593408600_B6","first-page":"197","article-title":"Hemophagocytic lymphohistiocytosis: report of 122 children from the International Registry. 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