title: [DIRA: life-threatening but treatable inherited inflammatory disease].
abstract: Deficiency of interleukin(IL)-1 receptor antagonist (DIRA) is an autosomal recessive inherited inflammatory disease, characterised by pustular skin rash and characteristic osteolytic and hypertrophic bone lesions. If left untreated, the disease may progress to a fatal sepsis with multiple organ failure. The symptoms result from an uncontrolled activity of the pro-inflammatory cytokines IL-1 alpha and IL-1 beta, due to the genetic lacking of the natural antagonist, IL-1 receptor antagonist (IL-1RA). Suppletion of the deficient protein induces rapid complete remission. Two cases from one family, both female neonates, illustrate the fatal natural progression, as well as the course under suppletion of IL-1RA (anakinra). Early recognition of this rare disorder can be life saving.
authors.affiliation: Universitair Medisch Centrum Utrecht, Afd. Kindergeneeskunde, The Netherlands.
authors.forename: Nienke M
authors.initials: NM
authors.lastname: ter Haar
authors.forename: Annet
authors.initials: A
authors.lastname: van Royen
authors.forename: Mariëlle E
authors.initials: ME
authors.lastname: van Gijn
authors.forename: Joost
authors.initials: J
authors.lastname: Frenkel
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007249:Inflammation / Q000235:genetics* / Q000473:pathology; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics / Q000627:therapeutic use*; D053582:Interleukin-1alpha / Q000235:genetics / Q000378:metabolism; D053583:Interleukin-1beta / Q000235:genetics / Q000378:metabolism; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors* / Q000235:genetics*
chemical_list: D053590:Interleukin 1 Receptor Antagonist Protein; D053582:Interleukin-1alpha; D053583:Interleukin-1beta; D017472:Receptors, Interleukin-1