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Title: Genetic Basis of Pulmonary Non-tuberculous Mycobacterial Infections      
citations:
18703788
19858235
description:
This project aims at characterizing the human host susceptibility to pulmonary non-tuberculous mycobacterial (PNTM) infections. PNTM infections occur in patients with chronic lung disease, but also in a distinct group of elderly women without lung defects but who share a common body morphology: tall and lean with scoliosis, pectus excavatum, and mitral valve prolapse. We performed whole exome and genome sequencing in extended families of patients with active PNTM. This unique collection of familial cohorts in PNTM represents an important opportunity for a high yield search for genes that regulate mucosal immunity. We also sequenced the genome of mycobacterial isolates from PNTM patients to integrate host PNTM susceptibility with mycobacterial genotypes and gain insights into the key factors involved in this devastating disease.
Identifier:
phs000719.v1.p1
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000719.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Mycobacterium avium-intracellulare Infection
affiliations:
Institute for Genome Sciences, University of Maryland School of Medicine, MD, USA
name:
Hervé Tettelin, PhD
roles:
Principal Investigator
affiliations:
Laboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
name:
Steven M. Holland, MD
roles:
Co-Investigators
affiliations:
Laboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
name:
Kenneth N. Olivier, MD
roles:
Co-Investigators
affiliations:
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
name:
N01-AI30071
roles:
Funding Source
affiliations:
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
name:
HHSN272200900007C
roles:
Funding Source
performedBy:
TitleNameInstitute Principal InvestigatorHervé Tettelin, PhDInstitute for Genome Sciences, University of Maryland School of Medicine, MD, USA Co-InvestigatorsSteven M. Holland, MDLaboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD, USA Co-InvestigatorsKenneth N. Olivier, MDLaboratory of Clinical Infectious Diseases, National Institutes of Health, Bethesda, MD, USA Funding SourceN01-AI30071National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA Funding SourceHHSN272200900007CNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000719.v1.p1
Identifier:
phs000719.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
Disease-Specific (Pulmonary non-tuberculous mycobacterial infection, IRB)
schedulesActivity:
This study is part of the NIH Genomic Sequencing Center for Infectious Disease (GSCID) project. The study was initiated on August 20, 2012.
alternateIdentifiers:
yes
selectionCriteria:

Inclusion Criteria:
Families with strong signal for PNTM syndrome.

Exclusion Criteria:
N/A

types:
Family
dateReleased:
02-17-2014
version:
phs000719.v1.p1
dateModified:
08-18-2014
abbreviation:
NIAID
name:
NIAID DAC
ID:
0
name:
dbGaP

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