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Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome

Lookup NU author(s): Dr Mario Abinun, Professor Andrew GenneryORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© Copyright © 2020 Ponsford, Clark, Mock, Abinun, Carne, El-Shanawany, Williams, Choudhury, Freeman, Gennery and Jolles.Dominant negative mutations in the transcription-factor STAT3 underlie the rare primary immunodeficiency Job's syndrome. Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) has shown promise in correction of the underlying immunological defect, with one report suggesting HSCT can prevent development of wider connective tissue complications. Here, we report the case of a 26 year old male who developed an acute ST-elevation myocardial infarction due to coronary artery ectasia and thrombosis, occurring despite pediatric allogeneic HSCT for STAT3-HIES and a predicted 10-year conventional cardiovascular risk of 0.1%. Vasculopathy associated with STAT3-HIES may persist or arise following HSCT and can precipitate life-threatening complications. This has implications for counseling and vascular surveillance, and highlights the need for further studies to determine the risk, pathogenesis, and optimal management of the vasculopathy associated with STAT3-HIES.

Publication metadata

Author(s): Ponsford MJ, Clark J, Mock J, Abinun M, Carne E, El-Shanawany T, Williams PE, Choudhury A, Freeman AF, Gennery AR, Jolles S

Publication type: Article

Publication status: Published

Journal: Frontiers in Pediatrics

Year: 2020

Volume: 8

Print publication date: 01/09/2020

Online publication date: 09/09/2020

Acceptance date: 06/08/2020

Date deposited: 13/01/2021

ISSN (electronic): 2296-2360

Publisher: Frontiers Media S.A.


DOI: 10.3389/fped.2020.00575


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