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 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.

• Authors: 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
• Journal: The journal of allergy and clinical immunology. In practice (J Allergy Clin Immunol Pract) 2018 May - Jun Vol. 6 Issue 3 Pg. 996-1001 ISSN: 2213-2201 [Electronic] United States
• PMID: 28939137 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

Chemical References

• Immunoglobulin E

Topics

• Adolescent
• Adult
• Aged
• Aspergillus fumigatus (physiology)
• Child
• Child, Preschool
• Drug Hypersensitivity (epidemiology)
• Eosinophilia
• Female
• Follow-Up Studies
• Food Hypersensitivity (epidemiology)
• Humans
• Immunoglobulin E (blood)
• Job Syndrome (epidemiology, immunology)
• Male
• Medical History Taking
• Middle Aged
• Pseudomonas aeruginosa (physiology)
• Quebec (epidemiology)
• Registries
• Respiratory Tract Infections (epidemiology)
• Skin (pathology)
• Staphylococcus aureus (physiology)
• Tooth (pathology)
• Young Adult