Hyper-IgE Syndromes and the Lung

• Published in: Clinics in chest medicine Vol. 37; no. 3; p. 557
• Main Authors: Freeman, Alexandra F, Olivier, Kenneth N
• Format: Journal Article
• Language: English
• Published: United States 01.09.2016
• Subjects: Guanine Nucleotide Exchange Factors - genetics; Humans; Job Syndrome - genetics; Job Syndrome - immunology; Job Syndrome - therapy; Lung Diseases - genetics; Lung Diseases - immunology; Lung Diseases - therapy; Mutation; Phosphoglucomutase - genetics; STAT3 Transcription Factor - genetics; Hyper-IgE syndromes; PGM3 deficiency; DOCK8 deficiency; Job syndrome; Pulmonary manifestations; STAT3
• ISSN: 1557-8216
• DOI: 10.1016/j.ccm.2016.04.016

Elevated serum IgE has many etiologies including parasitic infection, allergy and asthma, malignancy, and immune dysregulation. The hyper-IgE syndromes caused by mutations in STAT3, DOCK8, and PGM3 are monogenic primary immunodeficiencies associated with high IgE, eczema, and recurrent infections. These primary immunodeficiencies are associated with recurrent pneumonias leading to bronchiectasis; however, each has unique features and genetic diagnosis is essential in guiding therapy, discussing family planning, and defining prognosis. This article discusses the clinical features of these primary immunodeficiencies with a particular focus on the pulmonary manifestations and discussion of the genetics, pathogenesis, and approaches to therapy.