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Deficiency of interleukin-36 receptor antagonist
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Deficiency of interleukin-36 receptor antagonist

Contributors: Negar Esfandiari BHSc, Keith Morley MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Deficiency of interleukin-36 (IL-36) receptor antagonist (DITRA) is an autoimmune inflammatory disorder that manifests with generalized pustular psoriasis (GPP), fever, leukocytosis, and elevated C-reactive protein (CRP) levels.

DITRA is caused by loss of function mutations in the IL36RN gene (codes for the IL-36 receptor antagonist), which leads to loss of inhibition of the IL-36 receptor resulting in overexpression of NFkB, MAPK, and proinflammatory interleukins, such as interleukin-8 (IL-8), which recruits neutrophils to the skin. Often, a homozygous mutation is present, indicating an autosomal recessive inheritance pattern; however, compound heterozygous mutations have also been documented.

While the age of onset is often in infancy or childhood, onset in adolescence and adulthood has been reported. DITRA is marked by repeated, sudden-onset flares of pustular psoriasis that occur at variable intervals. Viral or bacterial infections, retinoid withdrawal, menstruation, and pregnancy have been documented as triggers for these flares.

DITRA can be a life-threatening illness and has a reported 4%-7% mortality rate without treatment.

Codes

ICD10CM:
M04.8 – Other autoinflammatory syndromes

SNOMEDCT:
784339002 – Deficiency of interleukin 36 receptor antagonist

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Last Reviewed:09/10/2021
Last Updated:08/15/2022
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Deficiency of interleukin-36 receptor antagonist
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