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.
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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 |
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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 > 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 |
URI: | https://discovery.ucl.ac.uk/id/eprint/10055278 |
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