An IL-17–dominant immune profile is shared across the major orphan forms of ichthyosis

• Published in: Journal of allergy and clinical immunology Vol. 139; no. 1; pp. 152 - 165
• Main Authors: Paller, Amy S., Renert-Yuval, Yael, Suprun, Maria, Esaki, Hitokazu, Oliva, Margeaux, Huynh, Thy Nhat, Ungar, Benjamin, Kunjravia, Norma, Friedland, Rivka, Peng, Xiangyu, Zheng, Xiuzhong, Estrada, Yeriel D., Krueger, James G., Choate, Keith A., Suárez-Fariñas, Mayte, Guttman-Yassky, Emma
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2017; Elsevier Limited
• Subjects: Adolescent; Adult; Age; Aged; Allergy and Immunology; autosomal recessive congenital ichthyosis; Baldness; Child; Congenital diseases; congenital ichthyosiform erythroderma; Cytokines; Demographics; Dermatitis, Atopic - genetics; Dermatitis, Atopic - immunology; Epidermis; epidermolytic ichthyosis; Family medical history; Female; Gene Expression; Humans; ichthyosis; Ichthyosis - genetics; Ichthyosis - immunology; IL-17; Inflammation; Interleukin-17 - genetics; Interleukin-17 - immunology; Interleukin-23 - genetics; Interleukin-23 - immunology; lamellar ichthyosis; Male; Middle Aged; Mutation; Netherton syndrome; Pruritus; Psoriasis; Psoriasis - genetics; Psoriasis - immunology; RNA, Messenger - metabolism; Severity of Illness Index; Skin; Skin - immunology; TNF-α; Young Adult; FLG; IHC; NS; skin; ARCI; DEFB4; IASI; PPL; inflammation; epidermolytic ichthyosis; lamellar ichthyosis; CIE; Netherton syndrome; TEWL; AD; CISI; AMP; EI; TSLP; hARP; Epidermis; IASI-E; autosomal recessive congenital ichthyosis; LOR; K16; TNF-α; PAR2; IL-17; IASI-S; LCN2; congenital ichthyosiform erythroderma; DC-LAMP; ichthyosis; LI; DC; Immunohistochemistry; Ichthyosis Area Severity Index–Scaling; Keratin 16; Filaggrin; Atopic dermatitis; β-Defensin-B4; Lipocalin 2; Dendritic cell; Transepidermal water loss; Periplakin; Ichthyosis Area Severity Index–Erythema; Loricrin; Ichthyosis Area Severity Index; Congenital Ichthyoses Severity Index; Protease-activated receptor 2; Dendritic cell lysosomal-associated membrane protein; Human acidic ribosomal protein; Thymic stromal lymphopoietin; Antimicrobial peptide

The ichthyoses are rare genetic disorders associated with generalized scaling, erythema, and epidermal barrier impairment. Pathogenesis-based therapy is largely lacking because the underlying molecular basis is poorly understood. We sought to characterize molecularly cutaneous inflammation and its c...