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|a 10.1016/j.clim.2019.108326
|2 doi
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|a pubmed25n1014.xml
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|a eng
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| 100 |
1 |
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|a Hoyt, Kacie J
|e verfasserin
|4 aut
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| 245 |
1 |
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|a The immunologic features of patients with early-onset and polyautoimmunity
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| 264 |
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|c 2020
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|a ƒa Online-Ressource
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|a Date Completed 04.08.2020
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|a Date Revised 02.02.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2019. Published by Elsevier Inc.
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|a 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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|a Journal Article
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|a Research Support, N.I.H., Extramural
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| 650 |
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|a Research Support, N.I.H., Intramural
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| 650 |
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|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a Autoimmunity
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| 650 |
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|a Immune dysregulation
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| 650 |
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4 |
|a Primary immunodeficiency
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| 700 |
1 |
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|a Chatila, Talal A
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Notarangelo, Luigi D
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hazen, Melissa M
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Janssen, Erin
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Henderson, Lauren A
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 211(2020) vom: 10. Feb., Seite 108326
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|x 1521-7035
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|g year:2020
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|g month:02
|g pages:108326
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