Work

Thymoma associated good syndrome presenting with combined immunodeficiency severe neutropenia and opportunistic infection

Year: 2026

Type: article

Abstract: Background: Thymomas can disrupt normal thymopoiesis through reduced expression of the autoimmune regulator (AIRE) gene, leading to immune dysregulation and paraneoplastic syndromes such as Good's syndrome. This rare condition is characterized by hypogammaglobulinemia, profound B-cell lymphopenia, T-cell dysfunction, neutralizing autoantibodies against cytokines such as interferon-α and interleukin-12, and increased susceptibility to opportunistic infections, particularly those caused by intracellular and encapsulated pathogens. Case Presentation: We report the case of a 54-year-old Colombian woman with a previously unidentified anterior mediastinal mass who presented with chronic diarrhea, severe neutropenia, and mucocutaneous herpes simplex infection. Immunological evaluation demonstrated marked hypogammaglobulinemia (IgG 473 mg/dL), undetectable IgM (< 21 mg/dL), and absence of circulating B cells on flow cytometry (CD19⁺ < 1%). Bone marrow flow cytometry revealed a markedly expanded CD8⁺ T-cell population with an inverted CD4/CD8 ratio and complete absence of B lymphocytes, without evidence of dysplasia or hematologic malignancy. Preserved trilineage hematopoiesis on bone marrow biopsy suggested an immune-mediated mechanism of neutrophil destruction rather than primary marrow failure. Due to severe neutropenia and high infectious risk, and after multidisciplinary risk-benefit assessment, temporary immunomodulatory therapy with rabbit antithymocyte globulin (rATG, 3.5 mg/kg over 5 days), cyclosporine, and filgrastim, together with intravenous immunoglobulin replacement and antiviral prophylaxis with acyclovir, was initiated to stabilize hematologic parameters and allow invasive procedures. After clinical stabilization, the patient underwent video-assisted thoracoscopic surgery with complete resection of the mediastinal mass. Histopathological analysis confirmed type A thymoma, establishing the diagnosis of Good's syndrome. Following thymectomy and initiation of regular intravenous immunoglobulin replacement therapy, the patient has not experienced any new opportunistic infections. Conclusion: Good's syndrome should be suspected in patients with thymoma presenting with hypogammaglobulinemia, inverted CD4/CD8 ratio, and opportunistic infections. This case highlights the importance of early immunological evaluation and the need for careful multidisciplinary risk-benefit assessment when considering potent immunosuppressive agents such as rATG in patients with pre-existing combined immunodeficiency. When administered with close monitoring for viral reactivation and appropriate antimicrobial prophylaxis, targeted immunomodulatory therapy may offer a viable rescue strategy for the management of severe immune-mediated cytopenias prior to definitive surgical treatment.

Source: Discover Medicine

DOI: 10.1007/s44337-026-00724-3

Authors: Diego Prieto Alvarado, Diana Marcela Bonilla, Giovanna Patricia Rivas Tafurt, Shirley Vanesa Correa, Yamil Liscano

Institution: Universidad Santiago de Cali

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,290