Severe T- and B-cell immune deficiency associated with malignant thymoma.
BACKGROUND
Immunodeficiency with thymoma syndrome is a rare disorder that generally occurs after the fourth decade of life. Typically, thymic tumors are benign, and gradually developing immunodeficiency consists of hypogammaglobulinemia with low B-cell counts and an inverted CD4+/CD8+ T-cell ratio due to excessive CD8+ T cells.


OBJECTIVE
To report the case of a 32-year-old, white man with an invasive malignant thymoma and profound combined T- and B-cell immunodeficiency associated with a normal CD4+/CD8+ T-cell ratio, absence of circulating B cells, and infection with an unusual organism.


METHODS
The patient presented with a superior vena cava syndrome caused by a malignant thymoma. During chemotherapy and radiotherapy, he experienced recurrent episodes of pulmonary infections due to Haemophilus influenza and Serratia marcescens and persistent oral thrush. He was diagnosed as having thymoma and underwent immunological evaluation.


RESULTS
Sixteen months after the diagnosis of thymoma, the immunological evaluation revealed profound lymphopenia, eosinopenia, very low counts of both CD4+ T cells and CD8+ T cells, and a normal CD4+/CD8+ ratio with negative delayed-type hypersensitivity skin test results. Hypogammaglobulinemia and absent specific antibody responses were associated with a lack of peripheral blood CD19+ B cells. Despite treatment with intravenous immunoglobulin, the patient died of respiratory insufficiency and sepsis secondary to a chronic pulmonary infection.


CONCLUSIONS
Malignant thymoma may be associated with severe combined immunodeficiency. A normal CD4+/CD8+ ratio and the absence of peripheral B cells suggest a bone marrow defect that affects both T and B cells in the pathogenesis of this syndrome. Comprehensive immunological evaluation should be performed when thymoma is diagnosed to initiate an early and effective treatment to prevent life-threatening complications.
Yel
Leman
L
Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, California 92697, USA. lyel@uci.edu
Liao
Otto
O
Lin
Fritz
F
Gupta
Sudhir
S
D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D000917:Antibody Formation / Q000276:immunology; D000918:Antibody Specificity / Q000276:immunology; D001402:B-Lymphocytes / Q000276:immunology*; D016516:CD4-CD8 Ratio; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology*; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology*; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D018655:Lymphocyte Count; D008279:Magnetic Resonance Imaging; D008297:Male; D009361:Neoplasm Invasiveness; D016868:Serratia Infections / Q000175:diagnosis / Q000276:immunology / Q000382:microbiology; D012706:Serratia marcescens / Q000276:immunology; D012720:Severity of Illness Index; D013945:Thymoma / Q000150:complications* / Q000276:immunology / Q000473:pathology; D013953:Thymus Neoplasms / Q000150:complications* / Q000276:immunology / Q000473:pathology; D014057:Tomography, X-Ray Computed
D007074:Immunoglobulin G