Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome

• DOI: 10.1007/s10875-021-00971-2
• Publication Date: 2021-02-01T10:03:13Z
• Authors: Stephanie C. Harr...; Christo Tsilifis; Mary A. Slatter; Zohreh Nademi; Austen Worth; Paul Veys; Mark J. Ponsford; Stephen Jolles; Waleed Al-Herz; Terence Flood; Andrew J. Cant; Rainer Doffinger; Gabriela Barcenas...; Ben Carpenter; Rachael Hough; Ásgeir Haraldsson; Jennifer Heimall; Bodo Grimbacher; Mario Abinun; Andrew R. Gennery
• Keywords: Primary Immunodeficiency; Hypogammaglobulinemia

Abstract Autosomal dominant hyper-IgE syndrome caused by dominant-negative loss-of-function mutations in signal transducer and activator of transcription factor 3 ( STAT3 ) (STAT3-HIES) is a rare primary immunodeficiency with multisystem pathology. The quality life patients STAT3-HIES determined not only the progressive, life-limiting pulmonary disease, but also significant skin disease including recurrent infections abscesses requiring surgery. Our early report indicated that hematopoietic stem cell transplantation might be effective STAT3-HIES, although few subsequent reports have reported successful outcomes. We update on progress our patient now over 18 years follow-up an additional seven cases, all whom survived despite demonstrating disease-related pathology prior to transplant. conclude cure immunological aspects stabilization even severe lung involvement may achieved allogeneic transplantation. Recurrent abolished. Donor T H 17 cells produce comparable levels IL17A healthy controls. future challenge will determine which should best offered this treatment at what point their history.