DIRA: life-threatening but treatable inherited inflammatory disease
Ter Haar, N.M.; van Royen, A.; van Gijn, M.ël.E.; Frenkel, J.
Nederlands Tijdschrift Voor Geneeskunde 154: A1601
2010
ISSN/ISBN: 1876-8784 PMID: 20482912 Document Number: 643544
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.