The role of hematopoietic cell transplantation (HSCT) in STAT3-HIES is emerging while successful transplant recipients have improved infection phenotype, the effect of HSCT on the nonimmunologic aspects of the disease remains unclear. There is no known treatment or prevention for the nonimmunologic characteristics, although optimization of calcium and vitamin D intake may be considered to improve bone health. Medications such as histamine-1 antagonists to control pruritus are helpful for more significant eczema. Antiseptic therapies for the skin such as dilute bleach baths and chlorhexidine are beneficial. Use of antibiotics and antifungal agents depends on the nature of the infection and the extent of involvement. Treatment of manifestations: The mainstay of treatment is prevention of staphylococcal abscesses and pneumonias with anti-staphylococcal prophylactic antibiotics as well as early aggressive treatment of infections. Lymphomas occur at an increased frequency. Most deaths are associated with gram-negative ( Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. STAT3 hyper IgE syndrome ( STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features.
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