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- W2316181507 abstract "Dominant negative mutations in STAT3 lead to elevated serum IgE, eczema, and recurrent skin and lung infections, known as autosomal dominant Hyper IgE Syndrome (AD-HIES). We aimed to characterize the phenotype of AD-HIES diagnosed in infancy and the impact of early diagnosis. We retrospectively reviewed 16 subjects referred for AD-HIES before age 2 years. Demographic, clinical and laboratory data concerning diagnosis and treatment were collected and compared between children with and without a family history of AD-HIES. Sixteen patients were diagnosed with AD-HIES before age 2 years, with 9 (56%) having a known family history. The median diagnosis age was 5.8 months and comparable between groups. Antibacterial prophylaxis was started in 94% and antifungal prophylaxis in 32% of the 16 patients. Nine of the 16 (56%) had documented skin abscesses: 5 probands and 4 with family history. All 7 probands had at least one pneumonia with 43% first presenting with Pneumocystis jiroveci. Six (67%) with family history had pneumonia. Newborn rash and eczema were common; severity was worse in probands. At current ages 1.3-30 years, 3 have pneumatoceles and 1 has bronchiectasis. Four of the 9 (current ages 1.3-6.6 years) with a family history were diagnosed genetically as newborns before symptoms developed and had antiseptic baths and antibacterial prophylaxis initiated in the first months of life. None reported skin abscesses or bacterial pneumonia, and eczema was mild. Prompt diagnosis of AD-HIES leads to earlier initiation of antibacterial prophylaxis and antiseptics, which are effective at reducing infection and improve clinical phenotype." @default.
- W2316181507 created "2016-06-24" @default.
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- W2316181507 date "2015-02-01" @default.
- W2316181507 modified "2023-09-23" @default.
- W2316181507 title "Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype" @default.
- W2316181507 doi "https://doi.org/10.1016/j.jaci.2014.12.1531" @default.
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