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Chronic Mucocutaneous Candidiasis, ACT1 Deficiency

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Encyclopedia of Medical Immunology

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Synonyms

Connection to I-kappa-B kinase and stress-activated protein kinase (CIKS) deficiency; TRAF3-interacting protein 2 deficiency

Definition

Nuclear factor-kappa-B activator 1 (ACT1) deficiency is an autosomal recessive disorder that leads to chronic mucocutaneous candidiasis (CMC). CMC is defined as recurrent or persistent mucocutaneous infections caused by fungi of the genus Candida, and primarily by the commensal organism Candida albicans (Kirkpatrick 2001; Puel et al. 2012). ACT1 deficiency leads to CMC through impairments in IL-17-mediated immunity.

Introduction

ACT1 was first identified in 2000 as an activating protein of NF-kappa B (NF-ÎşB) and Jun Kinase (Awane et al. 1999; Li et al. 2000; Leonardi et al. 2000). NF-ÎşB is a key transcription factor involved in cellular inflammatory, survival, and stress responses (Li et al. 2000; Baeuerle and Baltimore 1996). NF-ÎşB remains latent in the cytoplasm bound to a group of inhibitor proteins that are collectively called the IÎşB...

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References

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Author information

Authors and Affiliations

  1. BC Children’s Hospital, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

    Catherine M. Biggs & Stuart E. Turvey

Authors
  1. Catherine M. Biggs
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  2. Stuart E. Turvey
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Corresponding author

Correspondence to Catherine M. Biggs .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, Victoria, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Noel R. Rose

Section Editor information

  1. Child & Family Research Institute, Vancouver, Canada

    Stuart Turvey

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Biggs, C.M., Turvey, S.E. (2017). Chronic Mucocutaneous Candidiasis, ACT1 Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_63-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_63-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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