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2016 ; 37
(3
): 557-67
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Hyper-IgE Syndromes and the Lung
#MMPMID27514600
Freeman AF
; Olivier KN
Clin Chest Med
2016[Sep]; 37
(3
): 557-67
PMID27514600
show ga
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.