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

• Published in: Journal of allergy and clinical immunology 2017-01, Vol.139 (1), p.372-375.e4
• Main Authors: 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: Article
• Language: English
• Subjects: 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
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2016.07.024

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 β-lactamase domain, may preserve residual protein function and result in TlowB-/low leaky SCID or Omenn syndrome.13 The β-lactamase domain mutation in our patient (L123S) was associated with the presence of T cells, albeit in decreased numbers, a normal polyclonal Vβ repertoire, and normal or elevated concentrations of IgM and IgG, but absent IgA. Clinical manifestations of patients with hypomorphic ARTEMIS deficiency include recurrent respiratory tract infections, candidiasis, immune dysregulation, inflammatory bowel disease, and malignancies.15 None of the reported patients survived into adulthood without hematopoietic stem cell transplantation, except for one who continued to have severe infections and developed carcinoma in situ of the nipple.16 Our patient's clinical presentation was notable for his survival into adulthood, and for EV-HPV, likely due to his severely impaired T-cell function.\n9-12 The serum immunoglobulin concentrations shown were obtained when the patient was off immunoglobulin replacement therapy.