Hyper-IgE Syndromes and the Lung

Abstract

Summary Elevated serum IgE has many etiologies including parasitic infection, allergy and asthma, malignancy and immune dysregulation. The hyper IgE syndromes due to mutations in STAT3, DOCK8 and PGM3 are monogenic primary immunodeficiencies that are associated with high IgE, eczema and recurrent infections. All of 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. STAT3 mutated HIES is unique with respect to its multi-organ features and frequent pneumatocele formation. DOCK8 deficiency is characterized by severe cutaneous viral infections and early mortality. PGM3 deficiency is newly defined and is distinct in having neurologic abnormalities and cytopenias.

Lung disease in STAT3 hyper‐IgE syndrome requires intense therapy

“…Pulmonary complications are responsible for high morbidity and mortality rates in patients with STAT3 hyper‐IgE syndrome (STAT3‐HIES), a primary immunodeficiency disorder characterized by eczema, recurrent bacterial and fungal infections of the skin and lungs, eosinophilia, and elevated serum IgE levels. STAT3‐HIES is caused by heterozygous dominant‐negative mutations in the signal transducer and activator of transcription 3 ( STAT3 ) gene .…”

Considerations in the Diagnosis of Chronic Granulomatous Disease

“…It should be noted that Aspergillus infections occur in the setting of specific lung lesions (eg, pneumatoceles or bronchiectasis), which are not common in patients with CGD [67]. In addition, patients with AD-HIES have characteristic facies and skeletal abnormalities, and both AD-HIES and AR-HIES result in markedly elevated immunoglobulin E levels that are not present in patients with CGD [65].…”

Feasibility Study of Biosensors Based on Polymelamine‐modified Screen‐printed Carbon Electrodes

“…In addition, we found that the electrochemical polymerization of melamine reached a steady 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 state after 20 cycles. The diffusion coefficient of K 3 [Fe(CN) 6 ], was calculated to be 6.29 3 10 À6 cm 2 s À 1 in 2 M KCl [32] and 4.5 3 10 À 6 cm 2 s À 1 in 0.5 M KCl [33], and so the value of 4.5 3 10 À 6 cm 2 s À 1 was employed to estimate the effective working area. As such, the reproducibility and stability of the SPCE*-polymelamine material was then investigated.…”

“…In children, the initial symptoms of allergies are similar to those of the common cold, and are therefore often misdiagnosed. Indeed, Freeman and Olivier [3] recently reported that hyper-IgE syndromes could be associated with parasitic infections in addition to a range of pulmonary conditions. Furthermore, patients suffering from atopic allergic diseases, such as hay fever, asthma, and allergic rhinitis, have been shown to have increased total immunoglobulin E (IgE) levels [2].…”

“…In addition, patients suffering from allergies often have other comorbid symptoms, such as diabetes, obesity, or cardiovascular disease, resulting in complex clinical situations and poor outcomes [1]. Thus, although the monitoring of reductions in IgE content is helpful for the assessment of therapeutic responses [3], the process of withdrawing blood is challenging in children and in some adults. Indeed, Freeman and Olivier [3] recently reported that hyper-IgE syndromes could be associated with parasitic infections in addition to a range of pulmonary conditions.…”