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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.

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References

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