Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

Al Jasmi Fatma; Mohamed Abdelhaleem; Tracy Stockley; Kyong Soon Lee; Joe T.R. Clarke

doi:10.1097/MPH.0b013e31817580fd

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

Al Jasmi Fatma, Mohamed Abdelhaleem, Tracy Stockley, Kyong Soon Lee, Joe T.R. Clarke

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

Abstract

Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.

Original language	English
Pages (from-to)	621-624
Number of pages	4
Journal	Journal of Pediatric Hematology/Oncology
Volume	30
Issue number	8
DOIs	https://doi.org/10.1097/MPH.0b013e31817580fd
Publication status	Published - Aug 2008
Externally published	Yes

Keywords

Familial hemophagocytic
Hemochromatosis
Lymphohistiocytosis
Misattributed paternity
Perforin
Uniparental disomy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1097/MPH.0b013e31817580fd

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title = "Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis",

abstract = "Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.",

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AU - Fatma, Al Jasmi

AU - Abdelhaleem, Mohamed

AU - Stockley, Tracy

AU - Lee, Kyong Soon

AU - Clarke, Joe T.R.

PY - 2008/8

Y1 - 2008/8

N2 - Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.

AB - Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.

KW - Familial hemophagocytic

KW - Hemochromatosis

KW - Lymphohistiocytosis

KW - Misattributed paternity

KW - Perforin

KW - Uniparental disomy

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Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

Abstract

Keywords

ASJC Scopus subject areas

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