Diagnostic guidelines for hyper-IgE syndrome (HIES)

The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells.

Phagocyte immunodeficiencies (click to enlarge the image).

A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy.

Diagnostic guidelines for STAT3-deficient HIES:

- Possible: IgE >1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate.

- Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES.

- Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3.

The level of IgE increases during childhood until about 10 years of age. At age 10, the total IgE reaches a value that is typically maintained throughout adult life.


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