![]() With prophylactic antibiotics, the occurrence of these boils typically substantially diminishes. However, despite the absence of external signs of inflammation, upon aspiration, there is frank pus, and S. The “cold” abscesses initially described by Davis et al are common. The degree of inflammatory symptoms, such as tenderness and warmth is often quite variable. To achieve and maintain good control, anti-staphylococcal therapies (antibiotics or topical antiseptics, such as bleach) are often essential.īoils are a classic finding in this disease, and characteristic of the diagnosis. The rash can be quite significant, especially in childhood. Biopsies typically show an eosinophilic infiltrate and bacterial culture usually grows Staphylococcus aureus. In a series of 43 patients, 8 babies (19%) were born with the rash, and 23 (53%) acquired the rash within the first week of life 9. Pustular and eczematoid rashes usually begin within the first month of life, typically first affecting the face and scalp. To distinguish this dominant disease due to STAT3 mutation from the recessive forms of hyper IgE syndromes, and to distinguish this disease from other syndromes of IgE elevation, we will also refer to this disease as STAT3 deficiency.Ī newborn rash is usually the first manifestation of STAT3 deficiency 8, 9. We now know that STAT3 mutations are responsible for most, if not all, cases of autosomal dominant HIES, and these mutations have begun to explain the multi-system nature of the disease 2, 3. Until 2007, HIES remained the last of the major immune deficiencies without neither a known genetic etiology nor a comprehensive understanding of the associated immune dysfunction. Since that time, the classic triad of eczema, recurrent skin and lung infections and high serum IgE has been expanded to include skeletal, connective tissues, cardiac and brain abnormalities 7 - 9. The syndrome was refined by Buckley et al in 1972, who recognized extremely high serum IgE levels 6. The disease subsequently identified as Hyper IgE Recurrent Infection syndrome (HIES) was first described as Job's syndrome by Davis et al in 1966, 5 referring to the Biblical Job, who was “smote with sore boils”. Autosomal Dominant Hies ( STAT3 deficiency)
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