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Next Generation Mendelian Genetics: Familial Hemophagocytic Lymphohistiocytosis

ABSTRACT:

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Familial hemophagocytic lymphohistiocytosis (fHLH) is a serious immune disorder that results from defective cytotoxic lymphocyte function. Autosomal recessive mutations in PFP1, UNC13D, STX11, STBP2, or RAB27, and hemizygous mutations in SH2D1A or BIRC4, account for known causes of the disease, but 30-70% of patients in North America lack a known genetic etiology. This project was designed to identify additional genetic abnormalities from HLH patients.

The exome sequences of four unrelated individuals with a diagnosis of HLH, but without mutations in genes known to cause disease, were obtained by massively parallel DNA sequencing.

PROVIDER: phs000537 | dbGaP |

SECONDARY ACCESSION(S): PRJNA173803PRJNA173802

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000537.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000537.Mendelian_FHLH.v1.p1.MULTI.pdf	Pdf
	manifest_phs000537.Mendelian_FHLH.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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Next Generation Mendelian Genetics: Familial Hemophagocytic Lymphohistiocytosis

Project description:The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. Familial hemophagocytic lymphohistiocytosis (fHLH) is a serious immune disorder that results from defective cytotoxic lymphocyte function. Autosomal recessive mutations in PFP1, UNC13D, STX11, STBP2, or RAB27, and hemizygous mutations in SH2D1A or BIRC4, account for known causes of the disease, but 30-70% of patients in North America lack a known genetic etiology. This project was designed to identify additional genetic abnormalities from HLH patients. The exome sequences of four unrelated individuals with a diagnosis of HLH, but without mutations in genes known to cause disease, were obtained by massively parallel DNA sequencing.

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