|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, our data suggest that whole-exome sequencing for the heterozygous carrier of the IL36RN gene in GPP be used to find the potential second genetic locus.
|
31353537 |
2019 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Association of IL36RN mutations with clinical features, therapeutic response to acitretin, and frequency of recurrence in patients with generalized pustular psoriasis.
|
29619998 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic and monoallelic IL36RN mutations were identified in 15 and five patients with GPP, respectively.
|
28887889 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.
|
23698098 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis.
|
31789248 |
2020 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients with familial generalized pustular psoriasis.
|
27220475 |
2016 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report herein a new homozygous (c4G>T, pV2F) missense IL36RN mutation segregating in a family with three GPP-affected patients.
|
28603914 |
2019 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN.
|
29215143 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, recessive mutations in IL36RN have been identified in generalized pustular psoriasis (GPP).
|
25409173 |
2015 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report a case of a 6-year-old Taiwanese boy with GPP and homozygous mutation at c.115+6T>C within the IL-36 receptor antagonist (IL36RN) gene, who was treated successfully with secukinumab after failure of prior methotrexate, acitretin, cyclosporin A, etanercept and adalimumab.
|
30230584 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status.
|
27096382 |
2016 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN.
|
28726542 |
2017 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations.
|
29655177 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.
|
26589685 |
2016 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This special type of generalized pustular psoriasis caused by IL36RN mutations has been designated as deficiency for IL-36 receptor antagonist, a new hereditary autoinflammatory disease, and its phenotypes have emerged to include other related pustular disorders, palmoplantar pustulosis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustulosis.
|
23834760 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings suggest loss of function of IL36RN as the genetic basis of GPP and implicate innate immune dysregulation in this severe episodic inflammatory disease, thereby highlighting IL-1 signaling as a potential target for therapeutic intervention.
|
21839423 |
2011 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
|
21848462 |
2011 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
IL36RN mutation has been identified as one pathogenesis of generalized pustular psoriasis, but the existence of GPP patients without mutation makes this controversial.
|
28063630 |
2017 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found 2 new variants and 4 known IL36RN variants in 29 GPP patients, 18 individuals carried recessive (homozygous/compound heterozygous) alleles and 11 cases harbored a single heterozygous change.
|
25212972 |
2014 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast, only a few exceptional cases of GPP with PV were found to have recessive IL36RN mutations.
|
24656634 |
2014 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A rare, but severe, psoriasis-like disorder, generalized pustular psoriasis (GPP), is linked to loss-of-function mutations in the gene encoding IL-36RA, an important negative regulator of IL-36 signaling.
|
30718298 |
2019 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, early onset, ever generalized pustular psoriasis (more than two attacks), ever acrodermatitis continua of Hallopeau, inverse psoriasis, and a family history of pustular psoriasis were associated with IL36RN mutation.
|
26589685 |
2016 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
|
27220475 |
2016 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our data further underscore the critical role of IL36RN in pathogenesis of GPP.
|
22903787 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.
|
23863864 |
2013 |