TY - JOUR
T1 - Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry
AU - Gernez, Yael
AU - Freeman, Alexandra F.
AU - Holland, Steven M.
AU - Garabedian, Elizabeth
AU - Patel, Niraj C.
AU - Puck, Jennifer M.
AU - Sullivan, Kathleen E.
AU - Akhter, Javeed
AU - Secord, Elizabeth
AU - Chen, Karin
AU - Buckley, Rebecca
AU - Haddad, Elie
AU - Ochs, Hans D.
AU - Fuleihan, Ramsay
AU - Routes, John
AU - Muskat, Mica
AU - Lugar, Patricia
AU - Mancini, Julien
AU - Cunningham-Rundles, Charlotte
N1 - Funding Information:
This study received support from the National Institutes of Health (NIH) grant numbers AI-101093, AI-086037, and AI-48693.
Publisher Copyright:
© 2017 American Academy of Allergy, Asthma & Immunology
PY - 2018/5/1
Y1 - 2018/5/1
N2 - 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.
AB - 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.
KW - Buckley-Job syndrome
KW - Chronic mucocutaneous candidiasis
KW - Immunodeficiency
KW - Pneumatocele
KW - Quality of life
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U2 - 10.1016/j.jaip.2017.06.041
DO - 10.1016/j.jaip.2017.06.041
M3 - Article
C2 - 28939137
AN - SCOPUS:85029570324
SN - 2213-2198
VL - 6
SP - 996
EP - 1001
JO - Journal of Allergy and Clinical Immunology: In Practice
JF - Journal of Allergy and Clinical Immunology: In Practice
IS - 3
ER -
