Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

ABSTRACT:

Background

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.

Objective

To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients.

Methods

We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored di

SUBMITTER: Woellner C 

PROVIDER: S-EPMC2878129 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature