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Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Abstract : 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 chi(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. (C) 2017 American Academy of Allergy, Asthma & Immunology
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https://hal-amu.archives-ouvertes.fr/hal-02146847
Contributor : Jean-Charles Dufour <>
Submitted on : Tuesday, June 4, 2019 - 11:48:12 AM
Last modification on : Tuesday, June 2, 2020 - 6:54:02 PM

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Yael Gernez, Alexandra F. Freeman, Steven M. Holland, Elizabeth Garabedian, Niraj C. Patel, et al.. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2018, 6 (3), pp.996-1001. ⟨10.1016/j.jaip.2017.06.041⟩. ⟨hal-02146847⟩

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