| Literature DB >> 25667416 |
Brigid S Boland1, Christella E Widjaja2, Asoka Banno2, Bing Zhang2, Stephanie H Kim2, Samantha Stoven3, Michael R Peterson4, Marilyn C Jones5, H Irene Su6, Sheila E Crowe2, Jack D Bui7, Samuel B Ho7, Yoshinaga Okugawa8, Ajay Goel8, Eric V Marietta3, Mahdieh Khosroheidari9, Kristen Jepsen9, Jose Aramburu10, Cristina López-Rodríguez10, William J Sandborn1, Joseph A Murray3, Olivier Harismendy11, John T Chang12.
Abstract
The link between autoimmune diseases and primary immunodeficiency syndromes has been increasingly appreciated. Immunologic evaluation of a young man with autoimmune enterocolopathy and unexplained infections revealed evidence of immunodeficiency, including IgG subclass deficiency, impaired Ag-induced lymphocyte proliferation, reduced cytokine production by CD8(+) T lymphocytes, and decreased numbers of NK cells. Genetic evaluation identified haploinsufficiency of NFAT5, a transcription factor regulating immune cell function and cellular adaptation to hyperosmotic stress, as a possible cause of this syndrome. Inhibition or deletion of NFAT5 in normal human and murine cells recapitulated several of the immune deficits identified in the patient. These results provide evidence of a primary immunodeficiency disorder associated with organ-specific autoimmunity linked to NFAT5 deficiency.Entities:
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Year: 2015 PMID： 25667416 PMCID： PMC4355235 DOI： 10.4049/jimmunol.1401463
Source DB: PubMed Journal: J Immunol ISSN： 0022-1767 Impact factor: 5.422