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.