TY - JOUR
T1 - Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency
AU - Boland, Brigid S.
AU - Widjaja, Christella E.
AU - Banno, Asoka
AU - Zhang, Bing
AU - Kim, Stephanie H.
AU - Stoven, Samantha
AU - Peterson, Michael R.
AU - Jones, Marilyn C.
AU - Su, H. Irene
AU - Crowe, Sheila E.
AU - Bui, Jack D.
AU - Ho, Samuel B.
AU - Okugawa, Yoshinaga
AU - Goel, Ajay
AU - Marietta, Eric V.
AU - Khosroheidari, Mahdieh
AU - Jepsen, Kristen
AU - Aramburu, Jose
AU - López-Rodríguez, Cristina
AU - Sandborn, William J.
AU - Murray, Joseph A.
AU - Harismendy, Olivier
AU - Chang, John T.
N1 - Publisher Copyright:
Copyright © 2015 by The American Association of Immunologists, Inc.
PY - 2015/3/15
Y1 - 2015/3/15
N2 - 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.
AB - 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.
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U2 - 10.4049/jimmunol.1401463
DO - 10.4049/jimmunol.1401463
M3 - Article
C2 - 25667416
AN - SCOPUS:84924559554
SN - 0022-1767
VL - 194
SP - 2551
EP - 2560
JO - Journal of Immunology
JF - Journal of Immunology
IS - 6
ER -