ArticleClinical immunology (Orlando, Fla.)2020
The immunologic features of patients with early-onset and polyautoimmunity.
Article in Clinical immunology (Orlando, Fla.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.Clinical and experimental immunology · 2021Pooled it
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.Journal of human immunity · 2026Article
- A descriptive analysis of autoimmune cytopenias in children with inborn errors of immunity.Paediatrics & child health · 2025Article
- Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry.Journal of translational autoimmunity · 2025Article
- Multidisciplinary approach to treating complex immune dysregulation disorders: an adaptive model for institutional implementation.Frontiers in immunology · 2025Review
- Immunological Evaluation of Pediatric Patients with Polyautoimmunity.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Monogenic inborn errors of immunity in autoimmune disorders.Immunologic research · 2023Article
- Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach.Pediatric pulmonology · 2022Article
- Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies.Frontiers in immunology · 2021Article
- Frequency and Manifestations of Autoimmunity Among Children Registered in the Kuwait National Primary Immunodeficiency Registry.Frontiers in immunology · 2020Article
- Immunodeficiencies: non-infectious manifestations.Jornal de pediatriaReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Inflammatory conditions are increasingly described in patients with primary immunodeficiencies; however, little is known about the prevalence of immune defects in patients who present first with autoimmunity. We describe the immunologic features of children with early-onset/polyautoimmunity followed in the Multiple Autoimmunity and Immunodeficiency (MAID) Clinic, where patients are co-managed by rheumatologists and immunologists. The most common autoimmune manifestations were cytopenias, lymphoproliferation, and colitis. Recurrent infections were noted in 65% of patients. Abnormalities in lymphocyte subsets and immunoglobulins were common. A pathogenic variant was identified in 19% of patients, and 2 novel inherited disorders were discovered. Additionally, 42% of patients had treatment changes implemented in the MAID clinic. By evaluating this unique cohort of patients, we report on the immunologic underpinning of early-onset/polyautoimmunity. The high rate of genetic diagnoses and treatment interventions in this population highlights the value of collaboration between rheumatologists and immunologists in the care of these complex patients.
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