scholarly journals RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review

2021 ◽  
Vol Volume 14 ◽  
pp. 1637-1645
Author(s):  
Yuan Shi ◽  
Zhidong Qiao ◽  
Xiaoduo Bi ◽  
Chenxin Zhang ◽  
Junxian Fu ◽  
...  
Keyword(s):  
Literature Review ◽  
Gene Mutation ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Familial Hemophagocytic Lymphohistiocytosis

scholarly journals Familial Hemophagocytic Lymphohistiocytosis with A665 G Perforin Gene Mutation: A Case Report

2012 ◽  
Vol 29 (3) ◽  
pp. 265-269 ◽  
Author(s):  
Idil Yenicesu ◽  
Genevi ve De Saint Basile ◽  
Hamdi Cihan Emeksiz ◽  
Buket Dalgic
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Familial Hemophagocytic Lymphohistiocytosis

scholarly journals Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

1999 ◽  
Vol 64 (1) ◽  
pp. 165-171 ◽  
Author(s):  
Mina Ohadi ◽  
Michel R.A. Lalloz ◽  
Pak Sham ◽  
Jinghua Zhao ◽  
Andrew M. Dearlove ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Homozygosity Mapping ◽  
Familial Hemophagocytic Lymphohistiocytosis

scholarly journals Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis

2007 ◽  
Vol 204 (4) ◽  
pp. 853-863 ◽  
Author(s):  
Karine Crozat ◽  
Kasper Hoebe ◽  
Sophie Ugolini ◽  
Nancy A. Hong ◽  
Edith Janssen ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Cell Function ◽  
Nk Cell ◽  
Lymphocytic Choriomeningitis ◽  
Chromosome 11 ◽  
Familial Hemophagocytic Lymphohistiocytosis ◽  
Cytokine Levels ◽  
Antigen Presenting ◽  
Type 3 ◽  
Mouse Chromosome 11

Mouse cytomegalovirus (MCMV) susceptibility often results from defects of natural killer (NK) cell function. Here we describe Jinx, an N-ethyl-N-nitrosourea–induced MCMV susceptibility mutation that permits unchecked proliferation of the virus, causing death. In Jinx homozygotes, activated NK cells and cytotoxic T lymphocytes (CTLs) fail to degranulate, although they retain the ability to produce cytokines, and cytokine levels are markedly elevated in the blood of infected mutant mice. Jinx was mapped to mouse chromosome 11 on a total of 246 meioses and confined to a 4.60–million basepair critical region encompassing 122 annotated genes. The phenotype was ascribed to the creation of a novel donor splice site in Unc13d, the mouse orthologue of human MUNC13-4, in which mutations cause type 3 familial hemophagocytic lymphohistiocytosis (FHL3), a fatal disease marked by massive hepatosplenomegaly, anemia, and thrombocytopenia. Jinx mice do not spontaneously develop clinical features of hemophagocytic lymphohistiocytosis (HLH), but do so when infected with lymphocytic choriomeningitis virus, exhibiting hyperactivation of CTLs and antigen-presenting cells, and inadequate restriction of viral proliferation. In contrast, neither Listeria monocytogenes nor MCMV induces the syndrome. In mice, the HLH phenotype is conditional, which suggests the existence of a specific infectious trigger of FHL3 in humans.

scholarly journals Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis

Leukemia ◽  
1998 ◽  
Vol 12 (2) ◽  
pp. 200-206 ◽  
Author(s):  
M Tabrizi ◽  
W Yang ◽  
H Jiao ◽  
EMG DeVries ◽  
LC Platanias ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Familial Hemophagocytic Lymphohistiocytosis
Sign in / Sign up

Export Citation Format

Share Document