UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis
Journal
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
Journal Volume
53
Journal Issue
6
Pages
1039
Date Issued
2020-12
Author(s)
Subjects
Familial hemophagocytic lymphohistiocytosis; Munc13-4; UNC13D
Other Subjects
corticosteroid; cyclosporine; etoposide; immunoglobulin; membrane protein; UNC13D protein, human; case report; child; clinical article; computer assisted tomography; controlled study; disease activity; female; frameshift mutation; gene; gene mutation; hemophagocytic syndrome; human; human tissue; Letter; lymph node biopsy; nuclear magnetic resonance imaging; peripheral blood mononuclear cell; preschool child; recurrent disease; Sanger sequencing; spleen biopsy; unc13d gene; whole exome sequencing; diagnostic imaging; genetics; hemophagocytic syndrome; infant; male; metabolism; mutation; nucleotide sequence; Base Sequence; Child, Preschool; Female; Humans; Infant; Lymphohistiocytosis, Hemophagocytic; Male; Membrane Proteins; Mutation
Publisher
ELSEVIER TAIWAN
Type
letter