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Study Description

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.

  • Study Type: Cohort
  • Number of study subjects that have individual level data available through Authorized Access: 32

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Individuals diagnosed with MCD under the age of 35 years
  • Their biological parents

Exclusion criteria:

  • HHV-8 positive individuals

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X N/A N/A
Selected publications
Diseases/Traits Related to Study (MESH terms)
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Study Attribution