Presentation is loading. Please wait.

Presentation is loading. Please wait.

The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura,

Published byMichela Lelli Modified over 5 years ago

Similar presentations

Presentation on theme: "The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura,"— Presentation transcript:

1 The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura, Akemi Takemoto, Michiya Yamaguchi, Hidetoshi Takahashi, Yukiko Shoda, Teruyuki Mitsuma, Kenshiro Tsuda, Emi Nishida, Yaei Togawa, Kimiko Nakajima, Akihiro Sakakibara, Shigeo Kawachi, Makoto Shimizu, Yasutomo Ito, Takuya Takeichi, Michihiro Kono, Yasushi Ogawa, Yoshinao Muro, Akemi Ishida-Yamamoto, Shigetoshi Sano, Hiroyuki Matsue, Akimichi Morita, Hitoshi Mizutani, Hajime Iizuka, Masahiko Muto, Masashi Akiyama  Journal of Investigative Dermatology  Volume 133, Issue 11, Pages (November 2013) DOI: /jid Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Representative clinical features of the two subtypes of generalized pustular psoriasis (GPP): GPP alone and GPP with psoriasis vulgaris (PV). (a, b) GPP alone patient (Patient 2). Pustules on background erythema are seen on the trunk. (c–e) GPP with PV patient (Patient 12). Both pustular lesions (c, d) and psoriatic plaques (e) are observed on the trunk at different times. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Mutation analysis of IL36RN and analysis of IL36RN messenger RNA (mRNA) from plucked hair samples. (a–c) Representative sequencing data of the patients and controls. (a) Direct sequencing reveals a heterozygous c.28C>T mutation in Patient 2 and homozygous c.28C>T mutations in Patient 5 in exon 2. (b) Direct sequencing reveals a heterozygous c.115+6T>C mutation in Patient 2 in intron 3–4. (c) In Patient 2, who is compound heterozygous for c.28C>T and c T>C, normal transcripts and aberrantly spliced, shorter transcripts are identified by reverse transcriptase–PCR (RT–PCR) of IL36RN exon 2–exon 4 mRNA fragments. (d) Direct sequencing of the RT–PCR products shorter than those of normal controls revealed that the aberrant splicing resulted in the skipping of exon 3 in the patient’s IL36RN mRNA. Direct sequencing of RT–PCR products longer than those of normal controls revealed unrelated DNA sequence (data not shown). (e) Second structures of wild-type IL36RN and the mutant IL36RN produced from the mutant alleles. Note the mutant products have no critical residues that mediate the receptor interaction, such as His32, Lys38, Tyr89, Glu94, and Lys96 of IL36RN (Farooq et al., 2013). Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 HLA-A typing and mutation analysis of IL36RN in the family of Patients 24 and 25. HLA-A typing and mutation analysis of IL36RN in the family of Patients 24 and 25. Both patients with generalized pustular psoriasis with psoriasis vulgaris (PV) have the PV-susceptible HLA haplotype HLA-A*0206 as well as the two IL36RN mutations. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 The linkage disequilibrium (LD) block and the haplotype structure around IL36RN in ethnic Japanese populations. IL36RN structure and the LD block within IL36RN (a) were evaluated using genotype data from the HapMap database. (b) The haplotype structure with eight tag-single-nucleotide polymorphisms (SNPs) was determined using Haploview. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

6 Figure 5 Representative photos of histopathology of the generalized pustular psoriasis (GPP) skin lesions and distribution of interleukin-36 receptor antagonist (IL36RN). (a–c) (a) Histopathological features of pustular lesions in patients with GPP alone (Patient 4 with IL36RN mutations) and (b) GPP with psoriasis vulgaris (PV) (Patient 12 without any IL36RN mutation) and (c) a typical psoriatic plaque. Characteristic features of psoriasis, acanthosis, hyperkeratosis, and parakeratosis are seen in the epidermis of all the lesions. Pustules are observed in the epidermis of pustular lesions in both (a) the GPP alone patient and (b) the GPP with PV patient. Hematoxylin (HE) and eosin stain; bar=50μm. (d–f) (d) Immunohistochemical staining for IL36RN in the pustular lesions of GPP patients, a GPP alone patient with IL36RN mutations (Patient 4), and (e) GPP with PV patient not carrying any IL36RN mutations (Patient 12), and (f) in a psoriatic plaque as positive control. No IL36RN staining is seen in any part of the epidermis in the GPP alone patient carrying IL36RN mutations, although strong IL36RN labeling is observed in the upper epidermis of the pustular lesion of the GPP with PV patient without any IL36RN mutations and of a typical psoriatic lesion as a positive control. Anti-IL1F5 (IL36RN) antibody stain, bar=50μm. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura,"

Similar presentations

The CXC Receptor 2 Is Overexpressed in Psoriatic Epidermis

The CXC Receptor 2 Is Overexpressed in Psoriatic Epidermis
Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations  Michihiro Kono, Fumihiro Matsumoto,

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations  Michihiro Kono, Fumihiro Matsumoto,
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis  Toshifumi Nomura, MD, Aileen Sandilands, PhD,

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis  Toshifumi Nomura, MD, Aileen Sandilands, PhD,
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
CARD14 c.526G>C (p.Asp176His) Is a Significant Risk Factor for Generalized Pustular Psoriasis with Psoriasis Vulgaris in the Japanese Cohort  Kazumitsu.

CARD14 c.526G>C (p.Asp176His) Is a Significant Risk Factor for Generalized Pustular Psoriasis with Psoriasis Vulgaris in the Japanese Cohort  Kazumitsu.
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Francesca Capon  Journal of Investigative Dermatology 

Francesca Capon  Journal of Investigative Dermatology 
Next-Generation Sequencing: Methodology and Application

Next-Generation Sequencing: Methodology and Application
Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.
Patrick Campbell, Penny E

Patrick Campbell, Penny E
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline  Michihiro Kono,

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline  Michihiro Kono,
The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura,

The Majority of Generalized Pustular Psoriasis without Psoriasis Vulgaris Is Caused by Deficiency of Interleukin-36 Receptor Antagonist  Kazumitsu Sugiura,
Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling  Cécile Ged, Hala.

Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling  Cécile Ged, Hala.
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Acrosyringium Is the Main Site of the Vesicle/Pustule Formation in Palmoplantar Pustulosis  Masamoto Murakami, Takaaki Ohtake, Yoshimune Horibe, Akemi.

Acrosyringium Is the Main Site of the Vesicle/Pustule Formation in Palmoplantar Pustulosis  Masamoto Murakami, Takaaki Ohtake, Yoshimune Horibe, Akemi.
Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,
Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,
Analysis of Rare APC Variants at the mRNA Level

Analysis of Rare APC Variants at the mRNA Level
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis  Celia Moss, Amalia Martinez-Mir, HaMut.
Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum  Qiaoli Li, Jill.

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum  Qiaoli Li, Jill.

Similar presentations

Ads by Google