Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency

Brigid S. Boland, Christella E. Widjaja, Asoka Banno, Bing Zhang, Stephanie H. Kim, Samantha Stoven, Michael R. Peterson, Marilyn C. Jones, H. Irene Su, Sheila E. Crowe, Jack D. Bui, Samuel B. Ho, Yoshinaga Okugawa, Ajay Goel, Eric V. Marietta, Mahdieh Khosroheidari, Kristen Jepsen, Jose Aramburu, Cristina López-Rodríguez, William J. SandbornJoseph A. Murray, Olivier Harismendy, John T. Chang

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2551-2560
Number of pages10
JournalJournal of Immunology
Issue number6
StatePublished - Mar 15 2015

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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