Hemophagocytic lymphohistiocytosis with munc13-4 mutation: A cause of recurrent fatal hydrops fetalis

Pediatrics

Volumn 128, Issue 1, 2011, Pages

  Bechara, Elie ^a   Dijoud, Frédérique ^a   De Saint Basile, Geneviève ^b   Bertrand, Yves ^a   Pondarré, Corinne ^a  

^a UNIVERSITÉ LYON 1   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Familial hemophagocytic lymphohistiocytosis; FHL; Munc13 4; Nonimmune hydrops fetalis; Prenatal presentation

Indexed keywords

CD163 ANTIGEN; CD20 ANTIGEN; CD68 ANTIGEN; MEMBRANE PROTEIN; MUNC13 4 PROTEIN; UNCLASSIFIED DRUG;

ABDOMINAL DISTENSION; ARTICLE; ASCITES; AUTOPSY; B LYMPHOCYTE; CASE REPORT; CD3+ T LYMPHOCYTE; CONSANGUINEOUS MARRIAGE; DNA SCREENING; EDEMA; EXON; FETUS; FETUS DEATH; FETUS ECHOGRAPHY; FETUS HYDROPS; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOMEGALY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY HYPOPLASIA; LUNG; LYMPHOCYTIC INFILTRATION; MALE; PERICARDIAL EFFUSION; PLEURA EFFUSION; PRIORITY JOURNAL; RECURRENT DISEASE; SPLENOMEGALY; THYMUS;

FATAL OUTCOME; FEMALE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 79959950515     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-0764     Document Type: Article

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