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For information, or to submit a new mutation, contact the database curator.
Email: twins@mail.nih.gov

Additional Information From NIAID

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Clinical Features, Database of Mutations Causing Human Hyper IgE Syndrome (STAT3base)

Incidence of clinical and laboratory findings in patients with typical sporadic or autosomal dominant HIES.

Immune System

Findings

Incidence

Eczema 100%
Skin abscesses 87%
Recurrent pneumonia
(3 or more, proven by X-ray)
87%
Pneumatoceles 77%
Mucocutaneous candidiasis 83%

Skeletal Symptoms

Findings

Incidence

Characteristic face 83%
Wide nose
(interalar distance >2 SD above norm)
65%
Failure of dental exfoliation
(>3 teeth)
72%
Hyperextensibility 68%
Recurrent pathologic fractures 57%
Scoliosis (>10°) 63%

Laboratory Findings

Findings

Incidence

Serum-IgE
(>2000 U/ml or >10 times the age-specific upper norm)
97%
Eosinophilia
(>2 SD above norm)
93%

Adapted from Grimbacher, Bodo, Holland, Steven M. & Puck, Jennifer M. Hyper-IgE syndromes. Immunological Reviews 203 (1), 244 – 50.

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Last Updated March 24, 2010