Mutation analysis of interleukin-36RN gene in a child with erythroderma / 中华皮肤科杂志

A 2-year-old male child presented with recurrent diffuse desquamative red macules all over the body,without pustules or ulcers.The patient had repeated fever,which peaked at 39.3 ℃.The patient was diagnosed with erythroderma.Whole genome sequencing showed 2 compound heterozygous mutations (c.28C＞T and c.368C＞T) in the interleukin (IL)-36RN gene.The mutation c.28C＞T was inherited from his father,leading to p.Arg10X and premature termination of amino acid transcription.The mutation c.368C＞T was inherited from his mother,causing p.Thr123 Met.No mutation was found in the IL-1RN gene in the patient.The compound heterozygous mutations c.28C＞T and c.368C＞T may be responsible for erythroderma in this child.

Generalized Pustular Psoriasis

Generalized Pustular Psoriasis (GPP) is a dermatological emergency that often requires hospitalizationbecause of possible life-threatening complications, including heart failure, renal failure and sepsis. Itis a chronic recalcitrant disease in which acute pustular flares frequently recur on exposure to classictriggers. This review article is aimed to update the new insights into the genetic basis of GPP andhighlighted the central role IL1 and IL36 in the pathogenesis of GPP.

Serum levels of interleukin-36 and its receptor antagonist in patients with psoriasis and their correlations with disease severity / 中华皮肤科杂志

Objective To evaluate the relationship of serum levels of interleukin (IL)-36α,IL-36β and IL-36γas well as their receptor antagonist IL-36Ra with disease severity in patients with psoriasis.Methods Venous blood samples were collected from 45 patients with generalized pustular psoriasis (GPP),34 patients with psoriasis vulgaris (PV),and 37 healthy human controls.Enzyme-linked immunosorbent assay (ELISA) was performed to determine the serum levels of IL-36α,IL-36β,IL-36γ and IL-36Ra.Nonparametric Mann-Whitney test was conducted to compare the levels of IL-36 and IL-36Ra among these groups,and Spearman's rank correlation analysis to assess the relationship between the serum levels of IL-36 and IL-36Ra and disease severity.Results No statistical difference was observed in the serum levels of IL-36 or IL-36Ra among the patients with GPP,patients with PV,and healthy human controls.The serum levels of IL-36β and IL-36γ (given as the median ± interquartile range) were significantly higher in 27 patients with GPP during episodes of pustules ((12.101 ± 11.315) ng/L and (34.541 ± 15.580) ng/L respectively) and in 7 patients with severe GPP ((11.218 ± 9.318) ng/L and (38.536 ± 17.332) ng/L respectively) than in the healthy human controls ((5.355 ± 9.020) ng/L and (23.052 ± 22.410) ng/L respectively,P ＜ 0.05 or 0.01).The serum level of IL-36γwas positively correlated with that of IL-36β in patients with GPP,patients with PV,and the healthy human controls (r =0.85,0.86,0.91,respectively,all P ＜ 0.01),and both IL-36β and IL-36γserum levels were lowly and positively correlated with the severity of GPP (r =0.33,0.41,respectively,both P ＜ 0.05).A positive correlation was also observed between the serum level of IL-36β and psoriasis area and severity index (PASI) scores in patients with PV (r =0.54,P ＜ 0.01).Conclusions The serum levels of IL-363 and IL-36γ are lowly and positively correlated with disease severity in patients with GPP,suggesting that IL-36β and IL-36γplay an important role in the pathogenesis of GPP.