Inheritance: autosomal dominant with incomplete penetrance, or sporadic
Onset: usually in early childhood
Clinical findings:
(1) recurrent abscesses with Staphylococcus aureus
(2) history of recurrent infections, including pneumonia, otitis media and sinusitis
(3) chronic eczematous dermatitis
(4) asthma
(5) mucocutaneous Candidiasis
(6) craniosynostosis
(7) coarse facies (prominent nose, broad nasal bridge)
(8) growth retardation
(9) osteopenia
(10) hyperextensible joints
(11) scoliosis
(12) dental abnormalities, including delayed shedding of primary dentition
(13) keratoconjunctivitis
Laboratory findings:
(1) marked elevation in serum IgE concentrations (usually > 2,000 IU/mL)
(2) eosinophilia in the peripheral blood
(3) chemotactic defect in neutrophils
Complications:
(1) malignant lymphoma
(2) recurrent fractures
(3) pneumatoceles
(4) fungal infections
Differential diagnosis:
(1) atopic dermatitis
(2) chronic granulomatous disease
(3) Wiskott Aldrich Syndrome
