Azzedine Tahiat, PharmD, Yousef R

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Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult Azzedine Tahiat, PharmD, Yousef R. Badran, MD, Janet Chou, MD, Brittney Cangemi, BSc, Gerard Lefranc, PhD, Zakaria-Merouane Labgaa, MD, Salma Oussalam, MD, Assia Kaddouri-Slimani, MD, PhD, Ayad Belarbi, MD, PhD, Kheira Bendissari-Bouzid, MD, PhD, Merzak Gharnaout, MD, PhD, Raif S. Geha, MD, Réda Djidjik, PharmD, PhD, Michel J. Massaad, PhD Journal of Allergy and Clinical Immunology Volume 139, Issue 1, Pages 372-375.e4 (January 2017) DOI: 10.1016/j.jaci.2016.07.024 Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Skin and genetic features of the patient. A-C, Photographs showing flat warts on the forearm (Fig 1, A), elevated warts on the hands (Fig 1, B), and hypopigmented macules on the neck and face (Fig 1, C), all indicated by white arrowheads. D, Hematoxylin-eosin stain (40× magnification) of the patient's lesional biopsy showing hyperkeratosis (black arrowhead), mild acanthosis, and numerous large blue cells in the epidermis (yellow arrowheads). The granular cell layer is thickened and contains prominent variably sized granules (magnified in the inset). E and F, Immunohistochemistry revealing high expression of p16INK4a in the nuclei and cytoplasms of skin epidermal cells (brown coloration) in the patient's lesional skin biopsy (Fig 1, E) but not in a skin biopsy from a healthy control (Fig 1, F). Multiple koilocytes are evident in the patient's epidermis (red arrowheads) (40× magnification). G, Chromatograms of the coding strand show that the patient is homozygous and the parents are heterozygous for the mutation in DCLRE1C. Journal of Allergy and Clinical Immunology 2017 139, 372-375.e4DOI: (10.1016/j.jaci.2016.07.024) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 TCR Vβ repertoire distribution in the patient. A and B, The patient's CD4 (Fig E1, A) and CD8 (Fig E1, B) cell TCR Vβ repertoires were analyzed by flow cytometry and compared with the mean percentages of expression of 24 TCR Vβ from a cohort of 85 healthy control specimens. Journal of Allergy and Clinical Immunology 2017 139, 372-375.e4DOI: (10.1016/j.jaci.2016.07.024) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions