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10.1016/j.jaip.2017.06.041

http://scihub22266oqcxt.onion/10.1016/j.jaip.2017.06.041
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C5858974!5858974!28939137
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suck abstract from ncbi


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pmid28939137      J+Allergy+Clin+Immunol+Pract 2018 ; 6 (3): 996-1001
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  • Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry #MMPMID28939137
  • Gernez Y; Freeman AF; Holland SM; Garabedian E; Patel NC; Puck JM; Sullivan KE; Akhter J; Secord E; Chen K; Buckley R; Haddad E; Ochs HD; Fuleihan R; Routes J; Muskat M; Lugar P; Mancini J; Cunningham-Rundles C
  • J Allergy Clin Immunol Pract 2018[May]; 6 (3): 996-1001 PMID28939137show ga
  • BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. OBJECTIVE: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. METHODS: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. RESULTS: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient?s age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher?s exact test = .029) or A. fumigatus (P Fisher?s exact test = .016). Lung abscesses were significantly associated with drug reactions (P ?2 = .01; odds ratio: 4.03 [1.2?12.97]), depression (P Fisher?s exact test = .036), and lower Karnofsky index scores (P Mann-Whitney = .007). DISCUSSION: Data from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.
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