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Castleman Genome Project

ABSTRACT:

Multicentric Castleman disease (MCD) is a rare lymphoproliferative disorder driven by excessive production of inflammatory cytokines. Patients can exhibit a wide range of clinical features from mild flu-like symptoms to multiple organ failure and death. Human herpesvirus-8 (HHV-8) is a well-established cause of MCD in individuals who are immunosuppressed due to human immunodeficiency virus infection or other causes. On the other hand, it is not known what causes MCD in otherwise healthy individuals with no evidence of exposure to HHV-8 (idiopathic MCD or iMCD). Although iMCD is most common in 40-60 years old adults, it affects people of all ages and early-onset (childhood or young adulthood) cases have been reported. Germline mutations may underlie iMCD in such cases. Patients with early-onset iMCD and their family members were enrolled in the study. To identify germline mutations that may underlie iMCD, whole-genome sequencing was performed in patients and their biological parents from whom DNA samples were available.

PROVIDER: phs001706 | dbGaP |

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs001706.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001706.CastlemanGenomeProject.v1.p1.MULTI.pdf	Pdf
	manifest_phs001706.CastlemanGenomeProject.v1.p1.c1.HMB-IRB-NPU.pdf	Pdf
	datadict_v2.xsl	Other

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