Ontology highlight
ABSTRACT:
SUBMITTER: Dufourcq-Lagelouse R
PROVIDER: S-EPMC1377715 | biostudies-other | 1999 Jan
REPOSITORIES: biostudies-other
Dufourcq-Lagelouse R R Jabado N N Le Deist F F Stéphan J L JL Souillet G G Bruin M M Vilmer E E Schneider M M Janka G G Fischer A A de Saint Basile G G
American journal of human genetics 19990101 1
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder characterized by the early onset of overwhelming activation of T lymphocytes and macrophages, invariably leading to death, in the absence of allogeneic bone marrow transplantation. Using genomewide genetic linkage analysis, we analyzed a group of 17 families with FHL and mapped a locus for FHL to the proximal region of the long arm of chromosome 10. Ten families showed no recombination with three tightly linked ...[more]