The Syndrome of Hyperimmunoglobulinemia E and Recurrent Infections

Hyper IgE syndrome-case history

“…However, these neutrophils very frequently, but not always, show depressed chemotaxis. It has been suggested that this defect is the direct result ofthe intermittently high levels of circulating histamine which have been demonstrated in these patients (Hill, 1982), and this is supported by reports that it can be abolished in vitro by H2 antihistamines such as cimetidine (Hill et al^ 1976;Mawhinney et al, 1980). Treatment consists of: (i) skin care with particular emphasis on cleansing and the appropriate use of topical antimicrobials, (2) treatment of Candida infections topically or, when refractory, with oral ketoconazole, (3) long-term antibiotic prophylaxis to minimize lung damage, (4) oral H2 antihistamine administration to improve neutrophil function, similarly ascorbic acid (Friedenberg et al., 1979), (5) surgical drainage of abscesses and empyemata and (6) surgical excision of pneumatocoeles in selected cases.…”

Cytidine 5'-Diphosphate Reductase and Thymidine Kinase Activities in Phytohemagglutinin-stimulated Lymphocytes of Normal Subjects of Various Ages and Patients with Immunodeficiency

“…Therefore, the results indicated that diseases with low enzyme activities might be due to impairment of DNA synthesis in lymphocytes. It has been reported that the diseases listed in Table 1 involve impaired cell-mediated immunity (3,7,13,14,17,20). In addition, the degrees of reduction of enzyme activities were greater than that of thymidine incorporation in these patients.…”

Frank elevation of bronchoalveolar lavage fluid IgE level in hyperimmunoglobulin E syndrome

“…10 However, recent studies 11,12 identified dominant-negative mutations in the STAT3 gene as a major molecular etiology of the specific immunodeficiency mechanisms in the classical or type 1 HIES. 10 Rather than associated with primary neutrophil chemotactic defects, 13 the pulmonary and cutaneous staphylococcal infections in HIES are most likely due to defects in differentiation of Th17 cells [14][15][16][17] resulting in significantly decreased Th17 cell counts following mutations in the STAT3 gene. 18,19 This leads to deficiency of Th17 cytokines and, as a result, the lack of neutrophil-recruiting chemokines and antimicrobial β-defensins crucial in protecting against Staphylococcus aureus, especially in the epithelial cells of the lung and skin.…”