2009
DOI: 10.1203/pdr.0b013e31819dc8c5
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Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes

Abstract: ABSTRACT:Autosomal dominant Hyper-IgE syndrome (AD-HIES) is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and various connective tissue, skeletal, and vascular abnormalities. Mutations in signal transducer and activator of transcription 3 (STAT3) have recently been found to account for most cases; however, the pathogenesis of the varied features remains poorly defined. A distinct syndrome, known as autosomal recessive HIES (AR-HIES) manifests a… Show more

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Cited by 156 publications
(144 citation statements)
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“…Serum igE levels do not show a correlation with eosinophilia, which is very common. in case of acute infection, the leucogram might not show an increase, but neutropenia, although reported, is rare 1, 15 .…”
Section: Discussionmentioning
confidence: 97%
“…Serum igE levels do not show a correlation with eosinophilia, which is very common. in case of acute infection, the leucogram might not show an increase, but neutropenia, although reported, is rare 1, 15 .…”
Section: Discussionmentioning
confidence: 97%
“…AD-HIES presents with a characteristic facies, including a broad nose, deep-set eyes, a prominent forehead, and coarse facial features (Freeman and Holland 2009). Other musculoskeletal abnormalities include craniosynostosis, pathological fractures, osteoporosis, and retained primary teeth associated with palatal mucosal changes (Domingo et al 2007;Heimall et al 2010).…”
Section: Hani Hadimentioning
confidence: 99%
“…All those factors contribute to persistent fungal infections and induce manifestations typical of iron or vitamin deficiencies, e.g. paleness of the oral mucosa, atrophy of the lingual papillae, tongue fissures and slits, and angular cheilitis [28][29][30]. An unfavourable effect on the oral mucosa and dental tissue is also produced by a steroid anti-asthmatic agent used by a patient with bronchial asthma.…”
Section: Clinical Manifestations In the Oral Cavity In Patients With mentioning
confidence: 99%