Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult

Both domains have critical catalytic functions required for resolution of hairpin coding ends during V(D)J recombination, and processing overhangs that occur in a small fraction of DNA double-strand breaks.13 Hypomorphic mutations in ARTEMIS, which include missense mutations in the Î²-lactamase doma...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2017-01, Vol.139 (1), p.372-375.e4
Hauptverfasser:	Tahiat, Azzedine, PharmD, Badran, Yousef R., MD, Chou, Janet, MD, Cangemi, Brittney, BSc, Lefranc, Gerard, PhD, Labgaa, Zakaria-Merouane, MD, Oussalam, Salma, MD, Kaddouri-Slimani, Assia, MD, PhD, Belarbi, Ayad, MD, PhD, Bendissari-Bouzid, Kheira, MD, PhD, Gharnaout, Merzak, MD, PhD, Geha, Raif S., MD, Djidjik, Réda, PharmD, PhD, Massaad, Michel J., PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Allergy and Immunology Antigens Deoxyribonucleic acid DNA Endonucleases - deficiency Endonucleases - genetics Epidermodysplasia Verruciformis - diagnosis Epidermodysplasia Verruciformis - genetics Genetic Markers Homozygote Human papillomavirus Humans Immunoglobulins Infections Kinases Lymphocytes Male Mutation Nuclear Proteins - deficiency Nuclear Proteins - genetics Patients Proteins Young Adult Young adults
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