Thymoma associated good syndrome presenting with combined immunodeficiency severe neutropenia and opportunistic infection
- 1Departamento de Investigación y Educación, Clínica de Occidente S.A
- 2Programa de Especialización en Medicina Interna, Facultad de Salud, Universidad Santiago de Cali
- 3Grupo de Investigación en Salud Integral (GISI), Facultad de Salud, Universidad Santiago de Cali
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 present the case of a 54-year-old Colombian woman with a previously unidentified anterior mediastonic mass who presented with chronic diarrhea, severe neutropenia, and mucocutaneous herpes simplex infection. Immunological evaluation demonstrated hypogammaglobulinemia (IgG 473 mg/dL), undetectable IgM (< 21 mg/dL), and an 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 a complete absence of B lymphocytes, without evidence of dysplasia or hematologic malignancy. The preserved trilineage hematopoiesis in the bone marrow biopsy suggests an immune-mediated mechanism of neutrophil destruction rather than primary bone marrow failure. Due to severe neutropenia and a high risk of infection, and following a multidisciplinary risk-benefit assessment, temporary immunomodulatory therapy was initiated with rabbit antithymocyte globulin (rATG, 3.5 mg/kg for 5 days), cyclosporine, and filgrastim, along with intravenous immunoglobulin replacement and antiviral therapy with acyclovir, to stabilize hematological parameters and allow for invasive procedures. After clinical stabilization, the patient underwent video-assisted thoracoscopic surgery with complete resection of the mediastonic mass. Histopathological analysis confirmed a type A thymoma, establishing the diagnosis of Good syndrome. Following thymectomy and the 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.
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BibTeX
@article{alvarado2026thymoma,
title = {{Thymoma associated good syndrome presenting with combined immunodeficiency severe neutropenia and opportunistic infection}},
author = {Diego Prieto Alvarado and Diana Marcela Bonilla and Giovanna Patricia Rivas Tafurt and Shirley Vanesa Correa and Yamil Liscano},
journal = {Discover Medicine},
year = {2026},
month = oct,
doi = {10.1007/s44337-026-00724-3},
url = {https://doi.org/10.1007/s44337-026-00724-3},
note = {CC BY},
}
RIS
TY - JOUR
TI - Thymoma associated good syndrome presenting with combined immunodeficiency severe neutropenia and opportunistic infection
AU - Diego Prieto Alvarado
AU - Diana Marcela Bonilla
AU - Giovanna Patricia Rivas Tafurt
AU - Shirley Vanesa Correa
AU - Yamil Liscano
PY - 2026
DA - 2026/10/25
JO - Discover Medicine
DO - 10.1007/s44337-026-00724-3
UR - https://doi.org/10.1007/s44337-026-00724-3
AB - 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 present the case of a 54-year-old Colombian woman with a previously unidentified anterior mediastonic mass who presented with chronic diarrhea, severe neutropenia, and mucocutaneous herpes simplex infection. Immunological evaluation demonstrated hypogammaglobulinemia (IgG 473 mg/dL), undetectable IgM (< 21 mg/dL), and an 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 a complete absence of B lymphocytes, without evidence of dysplasia or hematologic malignancy. The preserved trilineage hematopoiesis in the bone marrow biopsy suggests an immune-mediated mechanism of neutrophil destruction rather than primary bone marrow failure. Due to severe neutropenia and a high risk of infection, and following a multidisciplinary risk-benefit assessment, temporary immunomodulatory therapy was initiated with rabbit antithymocyte globulin (rATG, 3.5 mg/kg for 5 days), cyclosporine, and filgrastim, along with intravenous immunoglobulin replacement and antiviral therapy with acyclovir, to stabilize hematological parameters and allow for invasive procedures. After clinical stabilization, the patient underwent video-assisted thoracoscopic surgery with complete resection of the mediastonic mass. Histopathological analysis confirmed a type A thymoma, establishing the diagnosis of Good syndrome. Following thymectomy and the 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.
SN - 3004-8885
ER -