STAT3-deficient hyperimmunoglobulin E syndrome: Report of a case with orofacial granulomatosis-like disease

Publication date: Available online 21 July 2018

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): Barbara Carey, Valeria Mercadante, Stefano Fedele, Mary Glover, Catherine Cale, Stephen Porter

Abstract

Hyperimmunoglobulin E syndrome (HIES) is a rare heterogenous primary immunodeficiency disorder characterised by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Autosomal dominant HIES (AD-HIES) and related disorders are due to defects in the Janus activated kinase-signal transducer and activator of transcription (JAK-STAT) signaling pathway leading to reduced numbers of Th17 cells and impaired production of IL-17A, IL-17F, and IL-22. In addition, neutrophils have chemotactic defects resulting in impaired responses at skin and lung sites. We report a case of orofacial granulomatosis-like disease in a teenage boy ultimately found to have autosomal dominant HIES due to a heterozygous mutation in the STAT3 gene.

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