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Article

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.

Blood cells, molecules & diseases - 1 Mar 2015

Mhatre Snehal, Madkaikar Manisha, Desai Mukesh, Ghosh Kanjaksha

Abstract excerpt

BACKGROUND: Inherited perforin deficiency is a rare autosomal recessive disorder that causes severe form of hemophagocytic lymphohistiocytosis (FHL2). The main aim of this study was to analyze the nature of gene mutations in a cohort of Indian patients with FHL2 and to utilize this knowledge for genetic counseling and prenatal diagnosis. METHODS: 13 HLH patients with abnormal perforin expression on NK cells by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25577959
DOI: 10.1016/j.bcmd.2014.11.023

Genes

FHL2
PRF1

Provenance

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