Faculty Collaboration Database

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. J Allergy Clin Immunol Pract 2018;6(3):996-1001

Date

09/25/2017

Pubmed ID

28939137

Pubmed Central ID

PMC5858974

DOI

10.1016/j.jaip.2017.06.041

Scopus ID

2-s2.0-85029570324 (requires institutional sign-in at Scopus site)   55 Citations

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.

Author List

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

MESH terms used to index this publication - Major topics in bold

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