DIRA: levensbedreigende, maar behandelbare aangeboren ontstekingsziekte.

Nienke M. ter Haar; Annet van Royen; Mariëlle E. van Gijn; Joost Frenkel

DIRA: levensbedreigende, maar behandelbare aangeboren ontstekingsziekte.

Translated title of the contribution: DIRA: life-threatening but treatable inherited inflammatory disease

Nienke M. ter Haar^*, Annet van Royen, Mariëlle E. van Gijn, Joost Frenkel

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

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.

Translated title of the contribution	DIRA: life-threatening but treatable inherited inflammatory disease
Original language	Dutch
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	154
Publication status	Published - 14 Jun 2010

Cite this

@article{f306d110b4e84470a09bd5b3b7de91a7,

title = "DIRA: levensbedreigende, maar behandelbare aangeboren ontstekingsziekte.",

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.",

author = "{ter Haar}, {Nienke M.} and {van Royen}, Annet and {van Gijn}, {Mari{\"e}lle E.} and Joost Frenkel",

year = "2010",

month = jun,

day = "14",

language = "Dutch",

volume = "154",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Bohn Stafleu van Loghum",

}

TY - JOUR

T1 - DIRA

T2 - levensbedreigende, maar behandelbare aangeboren ontstekingsziekte.

AU - ter Haar, Nienke M.

AU - van Royen, Annet

AU - van Gijn, Mariëlle E.

AU - Frenkel, Joost

PY - 2010/6/14

Y1 - 2010/6/14

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=77953271010&partnerID=8YFLogxK

M3 - Article

C2 - 20482912

AN - SCOPUS:77953271010

SN - 0028-2162

VL - 154

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

ER -

DIRA: levensbedreigende, maar behandelbare aangeboren ontstekingsziekte.

Abstract

Other files and links

Fingerprint

Cite this