Autoinflammatory keratinization diseases
TLDR
The concept of AIKDs encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and hyperactivation of the innate immune system resulting from those genetic defects plays an important role in the pathogenesis.Abstract:
Inflammation caused by the hyperactivation of innate immunity due to genetic factors occasionally leads to inflammatory cutaneous keratinization diseases. Such inflammatory keratinization diseases with genetic autoinflammatory mechanisms are called “autoinflammatory keratinization diseases” (AiKDs). We proposed a four-part definition of AiKDs. (i) The sites of primary and main inflammation are the epidermis and the upper dermis. (ii) The inflammation at these sites leads to hyperkeratosis, which is the main and characteristic phenotype of AiKDs. (iii) The primary genetic causative factors are associated with the hyperactivation of innate immunity (autoinflammation), mainly in the epidermis and upper dermis. (iv) The concept encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity.read more
Citations
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Journal ArticleDOI
Oxidative stress involvement in psoriasis: a systematic review
TL;DR: Data suggest that current therapies with drugs, a healthy lifestyle, and the integration of a diet rich in antioxidants help to reduce the damage of oxidative stress caused by psoriasis, especially at the level of the skin.
Journal ArticleDOI
RNA-Seq Analysis of IL-1B and IL-36 Responses in Epidermal Keratinocytes Identifies a Shared MyD88-Dependent Gene Signature.
William R. Swindell,Maria A. Beamer,Mrinal K. Sarkar,Shannon Loftus,Joseph Fullmer,Xianying Xing,Nicole L. Ward,Lam C. Tsoi,M. Kahlenberg,Yun Liang,Johann E. Gudjonsson +10 more
TL;DR: The results provide a global view of IL-1B and IL-36 expression responses in epidermal KCs with fine-scale characterization of time-dependent and cytokine-specific response patterns and show that MyD88 adaptor protein mediates shared IL- 1B/IL-36 responses.
Journal ArticleDOI
Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.
TL;DR: A better understanding of the pathophysiology of AIKD is likely to lead to innovative, targeted therapies that benefit patients, as elucidation of novel pathogenic mechanisms of inflammatory keratinization diseases emerges.
Journal ArticleDOI
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.
Laura Israel,Mark Mellett +1 more
TL;DR: The clinical, genetic and functional aspects of human and murine CARD14 mutations and their contribution to psoriatic disease pathogenesis are summarized.
Journal ArticleDOI
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Alon Peled,Alon Peled,Ofer Sarig,Guangping Sun,Liat Samuelov,Liat Samuelov,Chi Ma,Yuan Zhang,Tom DiMaggio,Celeste G Nelson,Kelly D. Stone,Alexandra F. Freeman,Liron Malki,Lucia Seminario Vidal,Latha M. Chamarthy,Valeria Briskin,J. Mohamad,J. Mohamad,Mor Pavlovsky,Jolan E. Walter,Joshua D. Milner,Eli Sprecher,Eli Sprecher +22 more
TL;DR: Although dominant gain‐of‐function mutations in CARD14 are associated with psoriasis and related diseases, loss‐of- function mutations in the same gene are associated in 4 patients with a severe variant of AD.
References
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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Slaheddine Marrakchi,Philippe Guigue,Blair R. Renshaw,Anne Puel,Xue-Yuan Pei,Sylvie Fraitag,Jihen Zribi,Elodie Bal,Céline Cluzeau,Maya Chrabieh,Jennifer E. Towne,Jason Douangpanya,Christian Pons,Sourour Mansour,Valérie Serre,Hafedh Makni,Nadia Mahfoudh,Faiza Fakhfakh,Christine Bodemer,Josué Feingold,Smail Hadj-Rabia,Michel Favre,Emmanuelle Génin,Mourad Sahbatou,Arnold Munnich,Jean-Laurent Casanova,John E. Sims,Hamida Turki,Hervé Bachelez,Asma Smahi +29 more
TL;DR: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
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TL;DR: Hidradenitis suppurativa/acne inversa is a chronic, inflammatory, recurrent, debilitating skin disease of the hair follicle that usually presents after puberty with painful, deep‐seated, inflamed lesions in the apocrine gland‐bearing areas of the body.
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Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
Alexandros Onoufriadis,Michael A. Simpson,Andrew Pink,Paola Di Meglio,Catherine H. Smith,Venu Pullabhatla,Jo Knight,Sarah L. Spain,Frank O. Nestle,A. David Burden,Francesca Capon,Richard C. Trembath,Jonathan Barker +12 more
TL;DR: 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.
Journal ArticleDOI
Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome
Wen-Xing Ding,Xiao Ming Yin +1 more
TL;DR: The ER-activated autophagy (ERAA) pathway as mentioned in this paper was proposed to mitigate endoplasmic reticulum (ER) stress caused by misfolded proteins, which activated a partial unfolded protein response involving PERK and/or IRE1.
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