Nature Communications (Sep 2019)
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
- Andrew J. Takeda,
- Timothy J. Maher,
- Yu Zhang,
- Stephen M. Lanahan,
- Molly L. Bucklin,
- Susan R. Compton,
- Paul M. Tyler,
- William A. Comrie,
- Makoto Matsuda,
- Kenneth N. Olivier,
- Stefania Pittaluga,
- Joshua J. McElwee,
- Debra A. Long Priel,
- Douglas B. Kuhns,
- Roger L. Williams,
- Peter J. Mustillo,
- Matthias P. Wymann,
- V. Koneti Rao,
- Carrie L. Lucas
Affiliations
- Andrew J. Takeda
- Department of Immunobiology, Yale University School of Medicine
- Timothy J. Maher
- Department of Immunobiology, Yale University School of Medicine
- Yu Zhang
- Clinical Genomics Program and Molecular Development of the Immune System Section, Laboratory of Immunology, NIAID, NIH
- Stephen M. Lanahan
- Department of Immunobiology, Yale University School of Medicine
- Molly L. Bucklin
- Department of Immunobiology, Yale University School of Medicine
- Susan R. Compton
- Department of Comparative Medicine, Yale University
- Paul M. Tyler
- Department of Immunobiology, Yale University School of Medicine
- William A. Comrie
- Clinical Genomics Program and Molecular Development of the Immune System Section, Laboratory of Immunology, NIAID, NIH
- Makoto Matsuda
- Laboratory of Molecular Biology, Medical Research Council
- Kenneth N. Olivier
- Pulmonary Branch, Division of Intramural Research, NHLBI, NIH
- Stefania Pittaluga
- Laboratory of Pathology, Clinical Center, NCI, NIH
- Joshua J. McElwee
- Merck Research Laboratories, Merck & Co
- Debra A. Long Priel
- Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research
- Douglas B. Kuhns
- Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research
- Roger L. Williams
- Laboratory of Molecular Biology, Medical Research Council
- Peter J. Mustillo
- Division of Infectious Diseases and Immunology, Nationwide Children’s Hospital
- Matthias P. Wymann
- University of Basel, Department of Biomedicine
- V. Koneti Rao
- Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH
- Carrie L. Lucas
- Department of Immunobiology, Yale University School of Medicine
- DOI
- https://doi.org/10.1038/s41467-019-12311-5
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 12
Abstract
Causally linking a mutation to clinical phenotypes in rare hereditary diseases is both challenging and illuminating. Here the authors identify PI3Kɣ mutations in a patient with immune dysregulation, and recapitulate the phenotypes in PI3Kɣ-deficient mice by exposing them to natural microbiota from pet-shop mice.
