. DEFECTS OF ADAPTIVE IMMUNITY .
There are two main forms of hyper-IgE syndromes (HIES) according to the gene defect and mode of inheritance: autosomal dominant (AD-HIES, or Job syndrome), mostly caused by mutations in the STAT3 gene, which is involved in the maturation of T cells, specifically Th17 cells; and the more severe autosomal recessive form (AR-HIES), which is usually explained by mutations in the DOCK8 gene, involved in B cell stimulation and in the maintenance of the structure and integrity of T cells and NK cells. However, mutations in other genes explain the less common forms of the disease.
- Respiratory and skin infections
- Elevated IgE levels
- Asthma, allergy, autoimmunity, immunodeficiency (AR-HIES)
- Joint, osseous, dental problems (AD-HIES)
- Onset: neonatal, infancy
- 1:10,000 – 1:100,000 (AD-HIES)
- 1:100,000-1:1,000,000 (AR-HIES)
Service benefits and management
- Genetic diagnosis and counselling
- Hematopoietic stem cell transplantation (HSCT)
- Moisturizing creams
- Antibiotic prophylaxis
- IVIG therapy
ARPC1B, DOCK2, DOCK8, FOXP3, IL21R, PGM3, PHF11, SPINK5, STAT3, STK4, TYK2, WAS, WIPF1, ZNF341