AI Article Synopsis
- Type 1 hyper IgE syndrome (HIES), or Job's Syndrome, is a genetic disorder linked to defects in STAT3 signaling and is marked by a range of symptoms including repeated infections, skin issues, and high IgE levels.
- Diagnosis can be tricky, especially in young children, as symptoms develop over time, and specialized scoring systems were created to aid in diagnosis since the first one was published in 1999.
- The document includes a case study of a young child diagnosed with disseminated histoplasmosis who also has a new variant in the STAT3 gene.
Article Abstract
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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248830 | PMC |
| http://dx.doi.org/10.1186/1476-7961-9-14 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!