|
Generalized pustular psoriasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Palmoplantar pustulosis (PPP), which is traditionally included among GPP-related diseases, has a controversial association with IL36RN.
|
27542682 |
2017 |
|
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 |
IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.
|
24898045 |
2014 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
|
21848462 |
2011 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis.
|
23428889 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
|
27388993 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.
|
28063630 |
2017 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
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 |
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 |
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 |
Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN.
|
28369922 |
2017 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.
|
23428889 |
2013 |
|
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 |
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 |
CausalMutation
|
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 |
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 |
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 |
BEFREE |
In contrast to GPP + PV, IL36RN mutations possibly play a more important role in the development of GPP alone.
|
30075588 |
2018 |
|
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 |
Biomarker
|
disease |
BEFREE |
Interleukin (IL)-8 and IL-36γ but not IL-36Ra are related to acrosyringia in pustule formation associated with palmoplantar pustulosis.
|
29896852 |
2019 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
|
21848462 |
2011 |