Diagnosis and management of autoinflammatory diseases in childhood

J Clin Immunol. 2008 May:28 Suppl 1:S73-83. doi: 10.1007/s10875-008-9178-3. Epub 2008 Mar 27.

Abstract

Introduction: Autoinflammatory diseases are a group monogenic inflammatory conditions characterized by an early onset during childhood.

Discussion: Under the term "periodic fevers" are gathered some monogenic diseases (familial Mediterranean fever, mevalonate kinase deficiency, and tumor necrosis factor receptor-associated syndrome) characterized by periodic or recurrent episodes of systemic inflammation causing fever often associated with rash, serositis (peritonitis, pleuritis), lymphadenopathy, arthritis, and other clinical manifestations. Systemic reactive (AA) amyloidosis may be a severe long-term complication. Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. Other disorders are dominated by the presence of sterile pyogen abscesses prevalently affecting the skin, joints, and bones (pyogenic disorders). These include pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome, and Majeed syndrome. Finally, some diseases, such as Blau's syndrome, are characterized by the appearance of typical noncaseating granulomatous inflammation affecting the joints, skin, and uveal tract (granulomatous disorders). In the present review, we will focus on the clinical presentation of these disorders in childhood and report on the available therapeutic strategies.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Age of Onset
  • Amyloidosis / etiology
  • Autoimmune Diseases / complications
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / physiopathology
  • Autoimmune Diseases / therapy*
  • CARD Signaling Adaptor Proteins / genetics
  • CARD Signaling Adaptor Proteins / immunology
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / genetics
  • Familial Mediterranean Fever / complications
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / genetics
  • Familial Mediterranean Fever / physiopathology
  • Familial Mediterranean Fever / therapy*
  • Genotype
  • Humans
  • Infant
  • Inflammation
  • Mevalonate Kinase Deficiency / complications
  • Mevalonate Kinase Deficiency / diagnosis*
  • Mevalonate Kinase Deficiency / genetics
  • Mevalonate Kinase Deficiency / physiopathology*
  • Mevalonate Kinase Deficiency / therapy
  • Mutation
  • Pyrin
  • Steroids / therapeutic use

Substances

  • Adaptor Proteins, Signal Transducing
  • CARD Signaling Adaptor Proteins
  • Cytoskeletal Proteins
  • MEFV protein, human
  • PSTPIP1 protein, human
  • Pyrin
  • Steroids