A new syndrome of familial aplastic anemia and chronic liver disease.
This report describes a new familial syndrome characterized by a combination of bone marrow failure and chronic liver disease. This disorder appears to be genetic in origin with an autosomal dominant inheritance and was characterized by hyperactivity of the immune system with increased activated cytotoxic T lymphocytes in peripheral blood and bone marrow and the presence of gamma-interferon messenger RNA in bone marrow of several cases.
Qazilbash
M H
MH
Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Md. 20892, USA.
Liu
J M
JM
Vlachos
A
A
Fruchtman
S
S
Messner
H
H
Zipursky
A
A
Alter
B P
BP
Young
N S
NS
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics / Q000503:physiopathology*; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome