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
Genetically transmitted immunologic disorder first
reported in 1966.
Undetermined; no sex or racial prevalence.
Autosomal recessive trait with variable
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 ...