학술논문
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
Document Type
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
Source
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Subject
Language
English
ISSN
2041-1723
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.