Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry - Archive ouverte HAL Access content directly
Journal Articles Journal of Allergy and Clinical Immunology: In Practice Year : 2018

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

, , , , , , , , , , , , , , , , , (1) ,
1
Yael Gernez
  • Function : Author
Alexandra F. Freeman
  • Function : Author
Steven M. Holland
  • Function : Author
Elizabeth Garabedian
  • Function : Author
Niraj C. Patel
  • Function : Author
Jennifer M. Puck
  • Function : Author
Kathleen E. Sullivan
  • Function : Author
Javeed Akhter
  • Function : Author
Elizabeth Secord
  • Function : Author
Karin Chen
  • Function : Author
Rebecca Buckley
  • Function : Author
Elie Haddad
  • Function : Author
Hans D. Ochs
  • Function : Author
Ramsay Fuleihan
  • Function : Author
John Routes
  • Function : Author
Mica Muskat
  • Function : Author
Patricia Lugar
  • Function : Author
Charlotte Cunningham-Rundles
  • Function : Author

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

Dates and versions

hal-02146847 , version 1 (04-06-2019)

Identifiers

Cite

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, 2018, 6 (3), pp.996-1001. ⟨10.1016/j.jaip.2017.06.041⟩. ⟨hal-02146847⟩
37 View
0 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More