期刊
CLINICAL IMMUNOLOGY
卷 211, 期 -, 页码 -出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2019.108326
关键词
Immune dysregulation; Autoimmunity; Primary immunodeficiency
类别
资金
- Rheumatology Research Foundation
- National Institute of Arthritis and Musculoskeletal and Skin Diseases [P30 AR070253-01, K08 AR073339-01, K08 AI114968]
- National Institute of Allergy and Infectious Diseases [5R01AI085090]
- Division of Intramural research, National Institute of Allergy and Infectious Diseases, NIH
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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