|
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 |
BEFREE |
Juvenile generalized pustular psoriasis with IL36RN mutation treated with short-term infliximab.
|
26627198 |
2016 |
|
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 |
Recently, recessive mutations in IL36RN have been identified in generalized pustular psoriasis (GPP).
|
25409173 |
2015 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
|
25989471 |
2015 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis.
|
24979538 |
2015 |
|
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 |
IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.
|
24898045 |
2014 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our data further underscore the critical role of IL36RN in pathogenesis of GPP.
|
22903787 |
2013 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.
|
23698098 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
|
23303454 |
2013 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
The expanding spectrum of rare monogenic autoinflammatory diseases.
|
24131530 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.
|
23863864 |
2013 |
|
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 |
|
Generalized pustular psoriasis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These studies found that IL36RN mutations account for only a fraction of GPP cases presenting with concomitant psoriasis vulgaris (PV; common or typical psoriasis).
|
24129779 |
2013 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in IL36RN in patients with generalized pustular psoriasis.
|
23648549 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our data further underscore the critical role of IL36RN in pathogenesis of GPP.
|
22903787 |
2013 |
|
Generalized pustular psoriasis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data further underscore the critical role of IL36RN in pathogenesis of GPP.
|
22903787 |
2013 |
|
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 |