Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology

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 p...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e5661652c92a434e8616129d00386c3f
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spelling	oai:doaj.org-article:e5661652c92a434e8616129d00386c3f2021-12-02T14:38:43ZHuman PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology10.1038/s41467-019-12311-52041-1723https://doaj.org/article/e5661652c92a434e8616129d00386c3f2019-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12311-5https://doaj.org/toc/2041-1723Causally 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.Andrew J. TakedaTimothy J. MaherYu ZhangStephen M. LanahanMolly L. BucklinSusan R. ComptonPaul M. TylerWilliam A. ComrieMakoto MatsudaKenneth N. OlivierStefania PittalugaJoshua J. McElweeDebra A. Long PrielDouglas B. KuhnsRoger L. WilliamsPeter J. MustilloMatthias P. WymannV. Koneti RaoCarrie L. LucasNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
description	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.
format	article
author	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
author_facet	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
author_sort	Andrew J. Takeda
title	Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
title_short	Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
title_full	Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
title_fullStr	Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
title_full_unstemmed	Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
title_sort	human pi3kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/e5661652c92a434e8616129d00386c3f
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Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology

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