Review
Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
-
* Corresponding author: Dukhee B Lew dlew@uthsc.edu
- † Equal contributors
1 Children's Foundation Research Center at Le Bonheur Children's Hospital, University of Tennessee Health Center, Memphis, TN 38103-2800, USA
2 Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA
3 Advanced Diagnostics Immunology Laboratories, National Jewish Hospital, Denver, CO 80015, USA
Clinical and Molecular Allergy 2011, 9:14 doi:10.1186/1476-7961-9-14
Published: 29 November 2011Abstract
Type 1 hyper IgE syndrome (HIES), also known as Job's Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractures, atopic dermatitis and characteristic facies. These manifestations are accompanied by elevated IgE levels and reduced IL-17 producing CD3+CD4+ T cells. Diagnosis in young children can be challenging as symptoms accumulate over time along with confounding clinical dilemmas. A NIH clinical HIES scoring system was developed in 1999, and a more recent scoring system with fewer but more pathogonomonic clinical findings was reported in 2010. These scoring systems can be used as tools to help in grading the likelihood of HIES diagnosis. We report a young child ultimately presenting with disseminated histoplasmosis and a novel STAT3 variant in the SH2 domain.