DITRA syndrome is associated with mutation in:
Correct Answer: IL-36
Description: Ans: (a) IL-36Ref: Harrison's 19th edition, Page 2215, Genetic Home ReferenceDITRA SyndromeDITRA is an autosomal recessive disorder due to the genetic deletion of IL36RN, the gene encoding the IL-36 receptor antagonist.IL-36 has proinflammatory effects in keratinocytes 78; loss of the IL-36-receptor antagonist potentiates IL-36-mediated inflammation in keratinocytes.IL-36 is a member of the IL-1 cytokine superfamily.Homozygous or compound heterozygous IL36RN gene mutations are the cause of different clinical features of psoriasis including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua Hallopeau and acute generalized exanthematous pustular eruption.DITRA is characterized by intra-epidermal neutrophilic spongiform pustules, acanthosis with elongation of rete ridges, and parakeratosis in the stratum corneum.The recessively inherited deficiency of the IL-36 receptor antagonist (DITRA) presents with episodes of generalized pustular psoriasis and dramatic systemic inflammation.
Category:
Pathology
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