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Tregopathy in focus
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DOI：10.3389/fimmu.2025.1658140.png)
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Abstract
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Primary immune regulatory disorders are a newly coined term for a group of disorders in which autoimmune complications predominate. Herein; we present a case series of 26 patients with various regulatory T-cell (Treg) pathway defects who presented with multiple autoimmune complications. Twenty-six patients with pathogenic variants in T regulatory pathway genes were included; and their clinical data were evaluated. The median age at onset was 4.25 years; and the median delay in diagnosis was 2 years. The male-to-female ratio was 17:9. Thirteen children had LRBA deficiency; five had CTLA4 defect; two had IPEX; two had Cluster of differentiation 25 (CD25) defect; two had signal transducer and activator of transcription 3 (STAT3) Gain of function (GOF); and two had Fermitin family member 1 (FERMT1). Autoimmune cytopenia was the most common form of autoimmunity observed. Other autoimmune diseases included autoimmune hepatitis; inflammatory bowel disease; enteropathy; type 1 diabetes mellitus; thyroiditis; central nervous system (CNS) vasculitis; glomerulonephritis; and dermatitis. Most patients had evidence of lymphoproliferation with generalized lymphadenopathy and/or hepatosplenomegaly; 7/21 had hypogammaglobulinemia; 13/22 had low B-cell subsets; and 6/22 had low Cluster of differentiation 3 (CD3) levels. The treatments were diverse and included corticosteroids; cyclosporine; azathioprine; cyclosporine; and rituximab. After diagnosis; 12 patients were started on mTOR inhibitors; four on abatacept; and two on JAK inhibitors; with better control of autoimmunity. Five children underwent HSCT; and four are currently doing well. Patients with Treg deficiency present a broad range of clinical manifestations. A high index of suspicion for a monogenic cause of polyautoimmunity in early childhood can reduce delays in diagnosis. With the increasing availability of targeted therapies; the outcomes of these patients can be significantly improved.
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