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Cryopyrin-Associated Periodic Syndromes (CAPS)

  • Hal M. HoffmanEmail author
  • Jasmin B. Kuemmerle-Deschner
  • Raphaela Goldbach-Mansky
Chapter

Abstract

The cryopyrin-associated periodic syndromes (CAPS) include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) with shared and unique clinical features. Most patients possess heterozygous NLRP3 mutations leading to a hyperactive inflammasome, subsequent overproduction of interleukin (IL)-1β and inflammatory symptoms. Diagnostic challenges include a heterogeneous multi-systemic clinical presentation, somatic mosaicism, and low penetrance mutations. IL-1 targeted therapy has become the standard of care for CAPS based on its clinical efficacy and safety.

Abbreviations

AIDAI

Autoinflammatory Disease Activity Index

ASC

Apoptosis-associated speck like protein containing a caspase recruitment domain

CAPS

Cryopyrin-associated periodic syndromes

CARD

Caspase activating and recruitment domain

CINCA

Chronic infantile neurologic cutaneous and articular

CNS

Central nervous system

CRP

C-reactive protein

DAS

Disease activity scale

ESR

Erythrocyte sedimentation rate

FCAS

Familial cold autoinflammatory syndrome

FMF

Familial Mediterranean fever

IL

Interleukin

LPS

Lipopolysaccharide

LRR

Leucine-rich repeat

MKD

Mevalonate kinase deficiency

MWS

Muckle-Wells syndrome

NLR

NOD-like receptor

NLRP3

Nucleotide binding and oligomerization domain, leucine rich repeat, pyrin 3

NOD

Nucleotide-binding and oligomerization domain

NOMID

Neonatal-onset multisystem inflammatory disease

NSAID

Non-steroidal anti-inflammatory drug

PGE

Prostaglandin E

PKA

Protein kinase A

PYD

Pyrin domain

SAA

Serum amyloid A

TRAPS

Tumor necrosis factor receptor-associated periodic syndrome

VAS

Visual analog scale

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Hal M. Hoffman
    • 1
    Email author
  • Jasmin B. Kuemmerle-Deschner
    • 2
  • Raphaela Goldbach-Mansky
    • 3
  1. 1.Division of Pediatric Allergy, Immunology, and RheumatologyUniversity of California at San Diego and Rady Children’s HospitalSan DiegoUSA
  2. 2.Division of Paediatric Rheumatology, Department of Paediatrics and Autoinflammation Reference Center TuebingenUniversity Hospital TuebingenTuebingenGermany
  3. 3.Translational Autoinflammatory Disease Section (TADS), National Institute of Allergy and Infectious Diseases, NIHBethesdaUSA

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