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 as severe eczema, recurrent bacterial and viral skin infections, and sinopulmonary infections. As opposed to STAT3 deficient HIES, AR-HIES lacks the connective tissue and skeletal manifestations but has an increase in neurologic abnormalities. In this review, we discuss the clinical presentations, genetic etiologies, and immunologic abnormalities of these two syndromes. In addition, we discuss animal models of STAT3 deficiency that provide insight into the pathogenesis of HIES. Further understanding of how STAT3 results in the diverse manifestations of HIES will allow us to develop more specific therapies for HIES as well as for many of the manifestations, such as scoliosis, recurrent staphylococcal infections, and eczema, which are common in the general population. (Pediatr Res 65: 32R-37R, 2009)

Anestesia em paciente com Síndrome de Jó (hiper IgE): Relato de caso

“…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 .…”

Abstracts from the Immunodeficiency Canada 4th sCID Symposium

“…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).…”

Clinical immunology Clinical manifestations in the oral cavity in patients with hyper-IgE syndrome.

“…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.…”