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The immunologic features of patients with early-onset and polyautoimmunity.

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.

SUBMITTER: Hoyt KJ

PROVIDER: S-EPMC7050734 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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The immunologic features of patients with early-onset and polyautoimmunity.

Hoyt Kacie J KJ Chatila Talal A TA Notarangelo Luigi D LD Hazen Melissa M MM Janssen Erin E Henderson Lauren A LA

Clinical immunology (Orlando, Fla.) 20191212

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, lymphop ...[more]

PMID: 31838215

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Dataset Information

The immunologic features of patients with early-onset and polyautoimmunity.

Publications

The immunologic features of patients with early-onset and polyautoimmunity.

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