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

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
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Science
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Acceso en línea:https://doaj.org/article/e5661652c92a434e8616129d00386c3f
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Sumario: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.

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