UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis

J Microbiol Immunol Infect. 2020 Dec;53(6):1039-1041. doi: 10.1016/j.jmii.2020.04.001. Epub 2020 Apr 11.

Authors

Chun-Hua Liao¹, Ni-Chung Lee², Shiann-Tarng Jou¹, Bor-Luen Chiang³, Hsin-Hui Yu⁴

Affiliations

¹ Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.
² Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
⁴ Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan. Electronic address: yuhsinhui0121@ntu.edu.tw.

PMID: 32327331
DOI: 10.1016/j.jmii.2020.04.001

No abstract available

Keywords: Familial hemophagocytic lymphohistiocytosis; Munc13-4; UNC13D.

Publication types

Case Reports
Letter

MeSH terms

Base Sequence
Child, Preschool
Female
Humans
Infant
Lymphohistiocytosis, Hemophagocytic / diagnostic imaging
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphohistiocytosis, Hemophagocytic / metabolism
Male
Membrane Proteins / genetics*
Membrane Proteins / metabolism
Mutation

Substances

Membrane Proteins
UNC13D protein, human