title: Hyper-IgE Syndromes and the Lung.
abstract: 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.
authors: Laboratory of Clinical Infectious Diseases, NIAID, NHLBI, National Institutes of Health, Bethesda, MD, USA. Electronic address: freemaal@mail.nih.gov.
authors: Alexandra F
authors: AF
authors: Freeman
authors: Laboratory of Clinical Infectious Diseases, NIAID, NHLBI, National Institutes of Health, Bethesda, MD, USA.
authors: Kenneth N
authors: KN
authors: Olivier
mesh_terms: D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D007589:Job Syndrome / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D008171:Lung Diseases / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D009154:Mutation; D010733:Phosphoglucomutase / Q000235:genetics*; D050796:STAT3 Transcription Factor / Q000235:genetics*
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; C549916:PGM3 protein, human; D010733:Phosphoglucomutase
keywords: DOCK8 deficiency; Hyper-IgE syndromes; Job syndrome; PGM3 deficiency; Pulmonary manifestations; STAT3