Disease relevance of HIES

• The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE [1].
• Therapy for HIES is directed at prevention and management of infections by using sustained systemic antibiotics and antifungals along with topical therapy for eczema and drainage of abscesses [2].
• In contrast, those with AR-HIES have severe molluscum contagiosum and other viral infections and may develop severe neurological complications [2].
• CONCLUSION: IVGG is effective in the treatment of severe eczema in patients with HIES and atopic dermatitis [3].
• METHODS: I initially treated two patients with Kawasaki disease, both of whom also had HIES, with IVGG [3].

Psychiatry related information on HIES

• A 17 year old male with sporadic HIES, autism, and mild mental retardation was found to have a supernumerary marker chromosome in peripheral blood lymphocytes and skin fibroblasts [4].

High impact information on HIES

• Hyper-IgE syndrome and H2-receptor blockade [5].
• HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue [1].
• Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4 [1].
• In most sporadic and AD cases, the HIES clinical triad is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems [2].
• Hyper-IgE syndrome associated with an IL-4-producing gamma/delta(+) T-cell clone [6].

Chemical compound and disease context of HIES

• In a patient with Hyper-IgE-syndrome multiple liver abscesses developed in spite of prophylactic treatment with trimethoprim and sulfamethoxazol [7].

Biological context of HIES

• By microarray analysis, 38 genes showed over 2-fold differences between the HIES patients and healthy controls in purified CD14+ cells, although only small differences in the gene expression profiles were observed between the two groups in purified CD4+ T cells [8].
• CONCLUSIONS: These data revealed a severe dysbalance towards a Th2 phenotype in HIES patients which is likely to contribute to the specific pattern of infection susceptibility characteristic to HIES [9].
• A significantly larger number of lysosome-related genes were up-regulated, and significantly larger number of genes related to cell growth and maintenance were down-regulated in HIES [8].
• Proximal chromosome 4q therefore is a candidate region for disease genes for both HIES and autism [4].
• Our results showed a marked PMN chemotaxis defect (p less than 0.01) in the patients with HIES, while in the subjects with AD PMN cellular chemotaxis was normal and there was no correlation between the results of chemotaxis and serum IgE levels [10].

Anatomical context of HIES

• The reduced TGFbeta expression may involve the indigenous T-cell defects of HIES [11].
• She had been diagnosed with HIES at the age of 6 when the papillomatous lesions first occurred in oral cavity [12].
• The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system [13].
• Peyer's patches (PP) in germ-free rats (GF) and in the hyper-IgE syndrome patient (HIES) differ from their conventional rat (C) and healthy human (HH) counterparts in that GF rats contained fewer (two-fold) PP and none was detected in HIES [14].

Associations of HIES with chemical compounds

• To investigate the role of immunostimulating drugs in HIES, thymostimulin (TP1) and levamisole were given in highly controlled groups of patients after a wash out period with disodium-chromoglycate (DSCG) [15].

Regulatory relationships of HIES

• In contrast, the mean proportion of IL-13 expressing CD4+ cells was increased significantly in patients with HIES in both the resting and the activated state compared to healthy controls [16].

Other interactions of HIES

• Our studies do not support a role for a defective TLR response in HIES individuals [17].
• These results suggested that the in vivo activated T cells of HIES did not sufficiently express the IFNgamma and TGFbeta genes, which could affect IL-4-dependent IgE production [11].
• We conclude that increased expression of IL-13 in CD4+ cells from patients with HIES could account, at least partly, for raised IgE levels in those individuals [16].
• In summary, although HIES individuals had an IFN-gamma secretion defect, they also produced normal levels of several TLR-regulated proinflammatory cytokines [17].
• RESULTS: Interferon (IFN)gamma production, in addition to IFNgamma/IL-10 ratios, was 10-30-fold lower in the HIES patients compared with the healthy volunteers [9].

Analytical, diagnostic and therapeutic context of HIES

• RGC32 expression levels showed the greatest difference between the two groups, and were significantly elevated in HIES compared with those in severe atopic dermatitis or healthy controls using real-time PCR [8].
• It is, however, important to consider this association and obtain a corneal topography to rule out corneal ectasia in patients with HIES [18].
• The Hospital Infection Epidemiology and Surveillance (HIES) Unit has attempted to balance these requirements using a 'sentinel surveillance' approach with standardised definitions and methodology [19].
• The differential diagnosis of ABPA includes many conditions including chronic eosinophilic pneumonia, Churg Strauss Syndrome, Hyper-IgE Syndrome, persistent asthma with lobar collapse, and cases of parasitism [20].

References