Yael Gernez1, Alexandra F Freeman2, Steven M Holland2, Elizabeth Garabedian3, Niraj C Patel4, Jennifer M Puck5, Kathleen E Sullivan6, Javeed Akhter7, Elizabeth Secord8, Karin Chen9, Rebecca Buckley10, Elie Haddad11, Hans D Ochs12, Ramsay Fuleihan13, John Routes14, Mica Muskat5, Patricia Lugar10, Julien Mancini15, Charlotte Cunningham-Rundles16. 1. Division of Allergy and Clinical Immunology, Icahn School of Medicine, Mount Sinai, New York, NY. 2. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. 3. National Institutes of Health, National Human Genome Research Institute, Office of the Clinical Director, Bethesda, Md. 4. Division of Infectious Disease and Immunology, Department of Pediatrics, Levine Children's Hospital, Carolinas Medical Center, Charlotte, NC. 5. Department of Pediatrics, University of California San Francisco School of Medicine and UCSF Benioff Children's Hospital, San Francisco, Calif. 6. Division of Allergy and Clinical Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa. 7. Department of Pediatric Pulmonology, Advocate Hope Children's Hospital, Oak Lawn, Ill. 8. Allergy, Asthma, and Immunology, Children's Hospital of Michigan Specialty Center-Detroit, Detroit, Mich. 9. Division of Allergy and Immunology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah. 10. Department of Immunology, Duke University Medical Center, Durham, NC. 11. Division of Allergy, Clinical Immunology and Rheumatology, CHU Sainte Justine, Montreal, Quebec, Canada. 12. Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, Wash. 13. Division of Pediatric, Northwestern University Feinberg School of Medicine, Chicago, Ill. 14. Division of Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wis. 15. Aix Marseille University, INSERM, IRD, UMR912 SESSTIM, APHM, Marseille, France. 16. Division of Allergy and Clinical Immunology, Icahn School of Medicine, Mount Sinai, New York, NY. Electronic address: charlotte.cunningham-rundles@mssm.edu.
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.
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.
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