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STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis–like disease

Carey, B; Mercadante, V; Fedele, S; Glover, M; Cale, C; Porter, S; (2018) STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis–like disease. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology , 126 (5) e252-e257. 10.1016/j.oooo.2018.07.006. Green open access

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Abstract

Hyperimmunoglobulin E syndrome (HIES) is a rare heterogeneous primary immunodeficiency disorder characterized by infections of the lung and skin, elevated serum immunoglobulin E, and involvement of soft and bony tissues. Autosomal dominant HIES and related disorders are caused by defects in the Janus activated kinase–signal transducer and activator of transcription signaling pathway, leading to reduced numbers of T helper cell type 17 and impaired production of interleukin (IL)-17 A, IL-17 F, and IL-22. In addition, neutrophils have chemotactic defects, resulting in impaired responses at skin and lung sites. We report here a case of orofacial granulomatosis–like disease in a teenage boy ultimately found to have autosomal dominant HIES caused by a heterozygous mutation in the STAT3 gene.

Type: Article
Title: STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis–like disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.oooo.2018.07.006
Publisher version: https://doi.org/10.1016/j.oooo.2018.07.006
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: STAT3 Transcription Factor, hyperimmunoglobulin E syndrome, Interleukin-17, Immunologic Deficiency Syndromes
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Eastman Dental Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Eastman Dental Institute > EDI MaxFac, Diagnostic, Med and Surg Sci
URI: https://discovery.ucl.ac.uk/id/eprint/10055278
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