Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)/Proteasome-Associated Autoinflammatory Syndromes (PRAAS)

  • Gina A. Montealegre SanchezEmail author
  • Adriana A. de Jesus
  • Raphaela Goldbach-Mansky
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_129-1

Synonyms

Definition

CANDLE/PRAAS is a genetically defined Type I interferonopathy caused by recessive or digenic loss-of-function (LOF) mutations in proteasome genes PSMB8, PSMB9, PSMA3, PSMB4, and PSMG2 and dominant loss of function mutations that cause haploinsufficiency in POMP.

CANDLE/PRAAS patients present with recurrent fever, panniculitis-induced lipodystrophy, joint contractures, myositis, cytopenia, basal ganglia calcifications, and elevated acute phase reactants. Forty to 80% of patients develop systemic hypertension, metabolic syndrome, and hepatic steatosis often within the first decade of life. Primary pulmonary hypertension has been reported in two young patients.

Introduction and Background

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References

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Copyright information

© This is a U.S. Government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020

Authors and Affiliations

  • Gina A. Montealegre Sanchez
    • 1
    Email author
  • Adriana A. de Jesus
    • 1
  • Raphaela Goldbach-Mansky
    • 1
  1. 1.Translational Autoinflammatory Diseases Section (TADS)National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)BethesdaUSA

Section editors and affiliations

  • Raphaela Goldbach-Mansky
    • 1
  1. 1.Translational Autoinflammatory Diseases Section (TADS)National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH)BethesdaUSA