Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.

摘要

The hyper-IgE syndromes (HIESs) are rare primary immune deficiencies characterized by increased serum IgE levels, ecze-matous rash, and recurrent skin and lung infections. Both autosomal recessive and autosomal dominant inheritance have been described, but most HIES cases are sporadic Autosomal dominant HIES (AD-HIES), the most common form, has various immunologic and nonimmunologic abnormalities arising as consequences of impaired cytokine signal transduction and T_H17 cell deficiency caused by mutations in the signal transducer and activator of transcription 3 gene (STAT3). Although correction of the immunologic defect with allogeneic hematopoietic stem cell transplantation (HSCT) could be expected, the first transplantation attempts in 2 patients with HIES reported in 1998 and 2000 failed to show long-term benefits.