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J Infect. 2016 Jul 5;72 Suppl:S56-60. doi: 10.1016/j.jinf.2016.04.023. Epub 2016 May 6.

Treatment options for chronic mucocutaneous candidiasis.

Author information

1
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Center for Infectious Diseases (RCI), The Netherlands. Electronic address: frank.vandeveerdonk@radboudumc.nl.
2
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Center for Infectious Diseases (RCI), The Netherlands.

Abstract

Autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) is a rare and severe primary immunodeficiency that is characterized by mucocutaneous fungal infection, autoimmunity, cerebral aneurysms, and oropharyngeal and esophageal cancer. Recently, it was discovered that STAT1 mutations are responsible for AD-CMC. These mutations lead to the inability of STAT1 to be dephosphorylated, resulting in hyperphosphorylation, increased binding to the DNA, and gain of function (GOF) effects on STAT1 signaling. Furthermore, a characteristic feature of AD-CMC patients is deficiency in the T-helper 17 (Th17) responses, which is believed to be the immunological cause of the mucocutaneous fungal infection. No targeted treatment other than lifelong antifungal prophylaxis exists for AD-CMC. However, the discovery of the genetic and immunological defects makes it now possible to explore new treatment strategies. This review will discuss immunomodulatory treatment options that can be explored in patients with STAT1 GOF mutations.

KEYWORDS:

Fungal infection; Gain of function; Immunodeficiency; STAT1; Therapy; Treatment

PMID:
27161991
DOI:
10.1016/j.jinf.2016.04.023
[Indexed for MEDLINE]

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