Journal
CLINICS IN CHEST MEDICINE
Volume 37, Issue 3, Pages 557-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ccm.2016.04.016
Keywords
Hyper-IgE syndromes; Pulmonary manifestations; Job syndrome; DOCK8 deficiency; PGM3 deficiency; STAT3
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Funding
- Intramural Research Programs of the NIAID
- NHLBI
- NIH
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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.
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