Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 Jan;83(1):51-4.
doi: 10.1532/IJH97.05109.

A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis

Ikuyo Ueda  1 , Urara Kohdera, Shigeyoshi Hibi, Tohru Inaba, Ken Yamamoto, Tohru Sugimoto, Akira Morimoto, Eiichi Ishii, Shinsaku Imashuku
Affiliations
Case Reports

A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis

Ikuyo Ueda et al. Int J Hematol. 2006 Jan.

Abstract

A 4-month-old girl with clinical features of hemophagocytic lymphohistiocytosis (HLH) was successfully treated with immunochemotherapy but died at the age of 1 year and 3 months, before hematopoietic stem cell transplantation could be performed. Her family history showed death during infancy of the eldest sister, suggesting a diagnosis of familial HLH (FHL). Direct sequencing of the DNA extracted from the patient's spleen tissue obtained at autopsy revealed a novel perforin gene mutation: a homozygous 1289G insertion (Asp430 frameshift and termination at amino acid residue 457), which has not previously been reported in FHL patients.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Blood. 2005 Jun 15;105(12):4700-6 - PubMed
    1. Br J Haematol. 2001 Sep;114(4):761-9 - PubMed
    1. Arch Dis Child. 1952 Dec;27(136):519-25 - PubMed
    1. J Hum Genet. 2005;50(11):600-3 - PubMed
    1. Hum Mol Genet. 2005 Mar 15;14(6):827-34 - PubMed

Publication types