Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article 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 χ = .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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858974 | PMC |
| http://dx.doi.org/10.1016/j.jaip.2017.06.041 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
J Clin Immunol
April 2024
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Article Synopsis
- The CDC and ACIP endorse COVID-19 vaccination for patients with inborn errors of immunity (IEI), but there's limited knowledge on its safety and impact on infection severity in these patients.
- A study involving a registry of 1,245 IEI patients across 24 countries was conducted to gather data on vaccination frequency, safety, and effectiveness, revealing that 64.7% were vaccinated, primarily with mRNA vaccines.
- Results showed that vaccinated patients had significantly lower hospitalization and ICU admission rates when infected with COVID-19, indicating that vaccination is both safe and effective in reducing the severity of the disease in IEI patients.
CVID-Associated Intestinal Disorders in the USIDNET Registry: An Analysis of Disease Manifestations, Functional Status, Comorbidities, and Treatment.
J Clin Immunol
December 2023
Departments of Internal Medicine and Pediatrics, Division of Allergy and Immunology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, F4.100B, Dallas, TX, 75390-8859, USA.
Common variable immunodeficiency (CVID) has been subdivided into five phenotypes, including one marked by non-infectious enteropathies that lead to significant morbidity and mortality. We examined a large national registry of patients with CVID to better characterize this population and understand how the presence of enteropathy influences nutritional status, patient function, and the risk of additional non-infectious disorders in CVID patients. We also sought to illustrate the range of treatment strategies for CVID-associated enteropathies.
View Article and Find Full Text PDFRespiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry.
J Clin Immunol
November 2023
Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University, 600 N. Wolfe St, CMSC 1102, Baltimore, MD, 21287, USA.
Background: Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associated with recurrent pulmonary infections. However, it is unclear whether other infections or non-infectious respiratory conditions are related to its development.
Objective: To identify respiratory comorbidities associated with bronchiectasis in patients with CVID.
Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
Clin Immunol
October 2023
Immune deficiencies Lab, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico. Electronic address:
Purpose: There are currently more than 480 primary immune deficiency (PID) diseases and about 7000 rare diseases that together afflict around 1 in every 17 humans. Computational aids based on data mining and machine learning might facilitate the diagnostic task by extracting rules from large datasets and making predictions when faced with new problem cases. In a proof-of-concept data mining study, we aimed to predict PID diagnoses using a supervised machine learning algorithm based on classification tree boosting.
View Article and Find Full Text PDFBackground: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI and whether vaccination attenuates infection severity in IEI.
Objective: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI.