Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Yael Gernez, Alexandra F. Freeman, Steven M. Holland, Elizabeth Garabedian, Niraj C. Patel, Jennifer M. Puck, Kathleen E. Sullivan, Javeed Akhter, Elizabeth Secord, Karin Chen, Rebecca Buckley, Elie Haddad, Hans D. Ochs, Ramsay Fuleihan, John Routes, Mica Muskat, Patricia Lugar, Julien Mancini, Charlotte Cunningham-Rundles*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


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 χ2 =.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.

Original languageEnglish (US)
Pages (from-to)996-1001
Number of pages6
JournalJournal of Allergy and Clinical Immunology: In Practice
Issue number3
StatePublished - May 1 2018


  • Buckley-Job syndrome
  • Chronic mucocutaneous candidiasis
  • Immunodeficiency
  • Pneumatocele
  • Quality of life

ASJC Scopus subject areas

  • Immunology and Allergy


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