|
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 |
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 |
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 |
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 |
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 |
The relevancy of IL36RN mutation with mucosal involvement in GPP remains to be elucidated.
|
30474867 |
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 |
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 |
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 |
Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations.
|
29655177 |
2018 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mechanistically, the entities include generalized pustular psoriasis (GPP) without psoriasis vulgaris, impetigo herpetiformis and acrodermatitis continua, which are IL-36Ra-related pustuloses caused by loss-of-function mutations in IL36RN; GPP with psoriasis vulgaris and palmoplantar pustular psoriasis which are CARD14-mediated pustular psoriasiform dermatoses with gain-of-function variants of CARD14; PRP type V which is caused by gain-of-function mutations in CARD14; and, familial KLC in which mutations in NLRP1, an inflammasome sensor protein predominantly expressed in skin, have been identified.
|
29422292 |
2018 |
|
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 |
Biomarker
|
disease |
BEFREE |
To investigate the mechanism of GT, with and without GPP, three cohorts were recruited to conduct genotyping of IL36RN, which is the causative gene of GPP.
|
27900482 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.
|
28063630 |
2017 |
|
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 |
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 |
Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN.
|
28369922 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
|
27220475 |
2016 |