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Psoriasis: HELP
Articles by Xue-Yuan Pei
Based on 2 articles published since 2008
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Between 2008 and 2019, Xue-Yuan Pei wrote the following 2 articles about Psoriasis.
 
+ Citations + Abstracts
1 Review IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases. 2016

Tauber, Marie / Bal, Elodie / Pei, Xue-Yuan / Madrange, Marine / Khelil, Amel / Sahel, Houria / Zenati, Akila / Makrelouf, Mohamed / Boubridaa, Khaled / Chiali, Amel / Smahi, Naima / Otsmane, Farida / Bouajar, Bakar / Marrakchi, Slaheddine / Turki, Hamida / Bourrat, Emmanuelle / Viguier, Manuelle / Hamel, Yamina / Bachelez, Hervé / Smahi, Asma. ·INSERM unit U1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France. · Department of Biochemistry, University of Cambridge, Cambridge, UK. · Department of Dermatology, CHU Oran, Oran, Algeria. · Department of Dermatology, CHU Bab El Oued, Bab el Oued, Alger, Algeria. · Central laboratory of Biology, CHU Bab El Oued, Bab el Oued, Alger, Algeria. · Department of Dermatology and the Laboratory of Immunology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia. · Department of Dermatology, AP-HP, Saint-Louis Hospital, Paris, France. · Department of Dermatology, AP-HP, Saint-Louis Hospital, Paris, France; University Paris-Diderot, Sorbonne Paris Cité, Paris, France. · INSERM unit U1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France; Department of Dermatology, AP-HP, Saint-Louis Hospital, Paris, France; University Paris-Diderot, Sorbonne Paris Cité, Paris, France. · INSERM unit U1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France. Electronic address: asma.smahi@inserm.fr. ·J Invest Dermatol · Pubmed #27220475.

ABSTRACT: Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. 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. We analyzed the impact of a spectrum of IL36RN mutations on IL-36 receptor antagonist protein by using site-directed mutagenesis and expression in HEK293T cells. This enabled us to differentiate null mutations with complete absence of IL-36 receptor antagonist (the two previously unreported mutations, c.80T>C/p.Leu27Pro, c.28C>T/p.Arg10X, c.280G>T/p.Glu94X, c.368C>G/p.Thr123Arg, c.368C>T/p.Thr123Met, and c.227C>T/p.Pro76Leu) from mutations with decreased (c.95A>G/p.His32Arg, c.142C>T/p.Arg48Trp, and c.308C>T/p.Ser113Leu) or unchanged (c.304C>T/p.Arg102Trp and c.104A>G/p.Lys35Arg) protein expression. Functional assays measuring the impact of mutations on the capacity to repress IL-36-dependent activation of the NF-κB pathway showed complete functional impairment for null mutations, whereas partial or no impairment was observed for other mutations considered as hypomorphic. Finally, null mutations were associated with severe clinical phenotypes (generalized pustular psoriasis, acute generalized exanthematous pustular eruption), whereas hypomorphic mutations were identified in both localized (palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau) and generalized variants. These results provide a preliminary basis for genotype-phenotype correlation in patients with deficiency of the IL-36Ra (DITRA), and suggest the involvement of other factors in the modulation of clinical expression.

2 Article Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. 2011

Marrakchi, Slaheddine / Guigue, Philippe / Renshaw, Blair R / Puel, Anne / Pei, Xue-Yuan / Fraitag, Sylvie / Zribi, Jihen / Bal, Elodie / Cluzeau, Céline / Chrabieh, Maya / Towne, Jennifer E / Douangpanya, Jason / Pons, Christian / Mansour, Sourour / Serre, Valérie / Makni, Hafedh / Mahfoudh, Nadia / Fakhfakh, Faiza / Bodemer, Christine / Feingold, Josué / Hadj-Rabia, Smail / Favre, Michel / Genin, Emmanuelle / Sahbatou, Mourad / Munnich, Arnold / Casanova, Jean-Laurent / Sims, John E / Turki, Hamida / Bachelez, Hervé / Smahi, Asma. ·Department of Dermatology and the Laboratory of Immunology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia. ·N Engl J Med · Pubmed #21848462.

ABSTRACT: BACKGROUND: Generalized pustular psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type psoriasis. METHODS: We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive generalized pustular psoriasis. We assessed the effect of mutations on protein expression and conformation, stability, and function. RESULTS: We identified significant linkage to an interval of 1.2 megabases on chromosome 2q13-q14.1 and a homozygous missense mutation in IL36RN, encoding an interleukin-36-receptor antagonist (interleukin-36Ra), an antiinflammatory cytokine. This mutation predicts the substitution of a proline residue for leucine at amino acid position 27 (L27P). Homology-based structural modeling of human interleukin-36Ra suggests that the proline at position 27 affects both the stability of interleukin-36Ra and its interaction with its receptor, interleukin-1 receptor-like 2 (interleukin-1 receptor-related protein 2). Biochemical analyses showed that the L27P variant was poorly expressed and less potent than the nonvariant interleukin-36Ra in inhibiting a cytokine-induced response in an interleukin-8 reporter assay, leading to enhanced production of inflammatory cytokines (interleukin-8 in particular) by keratinocytes from the patients. CONCLUSIONS: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis. (Funded by Agence Nationale de la Recherche and Société Française de Dermatologie.).