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Genetic immunologic disorder characterized by recurrent skin and lung infections, mainly caused by Staphylococcus aureus, multiple fractures, eczematous dermatitis, coarse facies, and elevated immunoglobulin (Ig)E.

Hyper-IgE Syndrome; Hyperimmunoglobulin E Syndrome; HIE Syndrome; Hyperimmunoglobulin E-Recurrent Infection Syndrome; Job Buckley Syndrome

Genetically transmitted immunologic disorder first reported in 1966.

Undetermined; no sex or racial prevalence.

Autosomal recessive trait with variable penetrance.

Affected patients have an inadequate inflammatory response as a consequence of decreased chemotactic responses by neutrophils. Additionally, there is an imbalance between T-helper type 1 (Th1) cell production of interferon-gamma, which is low, and T-helper type 2 (Th2) cell production of interleukin-4, which is high. Whether these cytokine abnormalities could be consistent with increased IgE production, there is no correlation between IgE and interleukin-4 levels. These cytokine disorders cannot explain the high incidences of bone fractures, skeletal disorders, and facial features of the syndrome.

Based on clinical symptoms [immunodeficiency syndrome characterized by recurrent bacterial (staphylococcal) infections and elevated IgE levels] and immunoglobulin assays.

Patients look generally well with red hair, fair skin; they have reddish-brown eyes, coarse facies, craniosynostosis and chronic eczematoid dermatitis. Infections are recurrent. Most frequent infectious agents are S. aureus and C. albicans. Haemophilus influenzae, Streptococcus pneumoniae, enteric Gram bacteria, and herpes virus can be seen. Those infections are frequent on skin (indolent staphylococcal abscesses and mucocutaneous candidiasis) and lung (abscess, empyema and pneumatocele). Laboratory investigations show mild eosinophilia, high serum IgE (not initially), neutrophil granulocyte chemotaxis defect, salivary IgA deficiency, and high serum IgD. Abnormal reactions to infectious agents are common (cutaneous hypersensitivity reactions to S. aureus and C. albicans, serum and salivary anti-S. aureus IgA deficiency). Recurrent bacterial infections and abscesses of skin and sinopulmonary tract, coarse facies, mucocutaneous candidiasis, recurrent otitis, frequent fractures after minor trauma, frequent pneumatoceles. and recurrent coughing. Development of malignancies such as lymphoma and squamous cell carcinoma is not infrequent.

Evaluate respiratory function (clinical, history, chest x-ray films, CT, pulmonary function test, arterial blood gas analysis, bacterial). Evaluate infection sensitivity (clinical, history, laboratory). Determine location of abscesses. Query pulmonary pathology (abscess, empyema, pneumatoceles and pleural effusion).

Strict asepsis is needed considering immunodeficiency. Cutaneous puncture (venous access, regional anesthesia) may be realized as far as possible from any skin infection sites and/or abscesses. Regional anesthesia is not contraindicated but its benefit must be clearly established because of the potential risk of abscess.

N2O should be avoided because of high frequency of pneumatocele. Prophylactic antibiotics should be considered because these patients are immunodeficient.

Chronic Granulomatous Disease: Inherited disorder in which phagocytic cells are unable to kill certain types of bacteria and fungi, leading to recurrent life-threatening bacterial and fungal infections.

Common Variable Immunodeficiency (CVID): Heterogeneous disorder characterized by failure of B-lymphocyte differentiation into plasma cells (impaired IgG and ...

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