M287 an atypical presentation of stat3 hyper-ige syndrome

STAT3 Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency associated with eczema, mucocutaneous and pulmonary infections, and connective tissue abnormalities. Here we describe the case of a 4-year-old Hispanic girl with a history of Chiari-1 malformation, syrinx, hydrocephalus, and scoliosis without a history of eczema.

Source: Annals of Allergy, Asthma and Immunology - October 31, 2019 Category: Allergy & Immunology Authors: J. Van Mason, N. Raje Source Type: research