Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP....

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Published inAmerican journal of human genetics Vol. 89; no. 3; pp. 432 - 437
Main Authors Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.
Format Journal Article
LanguageEnglish
Published Cambridge, MA Elsevier Inc 09.09.2011
Cell Press
Elsevier
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Abstract Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN (previously known as IL1F5) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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.
AbstractList Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN (previously known as IL1F5) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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.Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN (previously known as IL1F5) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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.
Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN ( previously known as IL1F5 ) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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.
Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN (previously known as IL1F5) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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.
Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and features of systemic inflammation. We sequenced the exomes of five unrelated individuals diagnosed with GPP. Nonsynonymous, splice-site, insertion, and deletion variants with an estimated population frequency of <0.01 were considered as candidate pathogenic mutations. A homozygous c.338C>T (p.Ser113Leu) missense substitution of IL36RN was identified in two individuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c.142C>T (p.Arg48Trp) missense substitution. IL36RN (previously known as IL1F5) encodes an IL-1 family receptor antagonist, which opposes the activity of the IL-36A and IL-36G innate cytokines. Homology searches revealed that GPP mutations alter evolutionarily conserved residues. Homozygosity for the c.338C>T (p.Ser113Leu) variant is associated with an elevated proinflammatory response following ex vivo stimulation with IL36A. 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. [PUBLICATION ABSTRACT]
Author Pink, Andrew E.
Barker, Jonathan N.
Nestle, Frank O.
Di Meglio, Paola
Pullabhatla, Venu
Smith, Catherine H.
Spain, Sarah L.
Capon, Francesca
Onoufriadis, Alexandros
Knight, Jo
Trembath, Richard C.
Simpson, Michael A.
Burden, A. David
AuthorAffiliation 1 Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
3 Department of Dermatology, University of Glasgow, Glasgow, G11 6NT UK
2 St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
AuthorAffiliation_xml – name: 2 St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– name: 1 Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– name: 3 Department of Dermatology, University of Glasgow, Glasgow, G11 6NT UK
Author_xml – sequence: 1
  givenname: Alexandros
  surname: Onoufriadis
  fullname: Onoufriadis, Alexandros
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 2
  givenname: Michael A.
  surname: Simpson
  fullname: Simpson, Michael A.
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 3
  givenname: Andrew E.
  surname: Pink
  fullname: Pink, Andrew E.
  organization: St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 4
  givenname: Paola
  surname: Di Meglio
  fullname: Di Meglio, Paola
  organization: St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 5
  givenname: Catherine H.
  surname: Smith
  fullname: Smith, Catherine H.
  organization: St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 6
  givenname: Venu
  surname: Pullabhatla
  fullname: Pullabhatla, Venu
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 7
  givenname: Jo
  surname: Knight
  fullname: Knight, Jo
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 8
  givenname: Sarah L.
  surname: Spain
  fullname: Spain, Sarah L.
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 9
  givenname: Frank O.
  surname: Nestle
  fullname: Nestle, Frank O.
  organization: St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 10
  givenname: A. David
  surname: Burden
  fullname: Burden, A. David
  organization: Department of Dermatology, University of Glasgow, Glasgow, G11 6NT UK
– sequence: 11
  givenname: Francesca
  surname: Capon
  fullname: Capon, Francesca
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 12
  givenname: Richard C.
  surname: Trembath
  fullname: Trembath, Richard C.
  email: richard.trembath@kcl.ac.uk
  organization: Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
– sequence: 13
  givenname: Jonathan N.
  surname: Barker
  fullname: Barker, Jonathan N.
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  organization: St John's Institute of Dermatology, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24524145$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/21839423$$D View this record in MEDLINE/PubMed
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Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Copyright Cell Press Sep 9, 2011
2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics
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– notice: 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics
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Keywords Human
Skin disease
Pustular psoriasis
Critically ill
Pustulosis dermatosis
Genetics
Mutation
Generalized
Inflammatory disease
Language English
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Snippet Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous...
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SubjectTerms Biological and medical sciences
Bullous diseases of the skin
Child
Child, Preschool
Cytokines
Dermatology
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic Predisposition to Disease - genetics
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Humans
Immunity, Innate - genetics
Immunity, Innate - immunology
Interleukins - genetics
Interleukins - immunology
Interleukins - metabolism
Male
Medical genetics
Medical sciences
Middle Aged
Models, Molecular
Molecular and cellular biology
Mutation
Mutation, Missense - genetics
Pedigree
Psoriasis
Psoriasis - genetics
Psoriasis - immunology
Sequence Analysis, DNA
Signal transduction
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Title Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
URI https://dx.doi.org/10.1016/j.ajhg.2011.07.022
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Volume 89
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