Successful Engraftment of Donor Marrow After Allogeneic Hematopoietic Cell Transplantation in Autosomal-Recessive Hyper-Ige Syndrome Caused by Dedicator of Cytokinesis 8 Deficiency

The hyper-IgE syndromes are rare combined immune deficiencies associated with marked elevations in plasma IgE levels and eosinophilia. An autosomal-dominant form of hyperIgE syndrome caused by mutations in signal transducer and activator of transcription 3 is characterized by elevated IgE, eosinophilia, eczema, recurrent skin and pulmonary infections, and skeletal abnormalities.1 Recently, an autosomal recessive form of hyper-IgE syndrome caused by mutations in the dedicator of cytokinesis 8 (DOCK8) gene has been identified and is characterized by elevated IgE levels, eosinophilia, atopic dermatitis, asthma, food allergies, recurrent upper and lower respiratory tract infections, and unusual susceptibility to infections with herpesvirus family members (herpes simplex virus, human papilloma virus) and molluscum contagiosum.2,3 Cutaneous infections with human papilloma virus have progressed to squamous cell carcinomas in some cases. Immunologic evaluation of DOCK8- deficient patients has revealed T-cell lymphopenia with impaired proliferative responses of both CD41 and CD81 T cells as well as impaired differentiation of TH17 T cells.