Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome

Abstract

A 7-year-old girl, who was the first child of consanguineous parents and was diagnosed with DOCK8-deficient (homozygote large deletion, starts in exon 31 and extends at least to exon 48 of DOCK8 gene; kindly provided by Prof Dr. B. Grimbacher, Universitatsklinicum Freiburg, Freiburg, Germany) hyper-IgE recurrent infection syndrome (according to OMIM (Online Mendelian Inheritance in Man) naming, phenotype MIM (Mendelian Inheritance in Man) number #243700) 1 year ago when she presented with herpes simplex virus lesions disseminated throughout her body. Family history showed female and male patient deaths due to severe herpes simplex virus and human papillomavirus infections who died without receiving a genetic diagnosis (Figure 1, III-5e7). The patient was admitted with complaints of a swelling and wound on her lip which was under antifungal and antibiotic prophylaxis. The lip wound had begun as a herpetic lesion 7 months previously, and intravenous acyclovir was applied for 50 days by a regional clinic after progression of the lesion despite topical treatment. Foscarnet had been initiated