Putting the Pieces Together: A Case of Good’s Syndrome

Case Description A 68-year-old female presented for evaluation of a recurrent large painful genital ulcer. She had developed a similar lesion nine years earlier in conjunction with a mediastinal mass, which was excised, revealing a thymoma. The ulcer was grafted with healing but recurred four years later; a swab was positive for herpes simplex virus-2, and biopsy revealed viral cytopathic effects suggestive of a herpetic ulcer. She received a course of valacyclovir without improvement in symptoms. Medical history was significant for a chronic cough and an admission for pneumonia in the past. Examination revealed a large perineal ulcer and lower lung coarse crepitations. Testing for human immunodeficiency viruses 1 and 2 was negative. Immunoglobulin testing revealed profound hypogammaglobulinemia with markedly low IgG (0.94 g/L), IgA (0.05 g/L), and total IgM levels (<0.25 g/L). Lymphocyte subset enumeration revealed profound B cell lymphopenia, CD4 T cell lymphopenia, and mild NK cell lymphopenia. Chest imaging revealed bronchiectasis. A diagnosis of Good’s syndrome (thymoma with immunodeficiency) was made. She was reinitiated on valacyclovir therapy and is receiving four weekly intravenous immunoglobulins with an aim to achieve and maintain an IgG trough level of 6 g/L, following which she will undergo wound grafting. Discussion Recurrent or unusually severe presentations of infections should raise the possibility of an underlying immunodeficiency. Good’s syndrome is a rare, acquired cause of immunodeficiency affecting both humoral and cell-mediated immunity. Patients typically present in the fourth to sixth decade of life with symptoms attributable to mass effect from thymoma and/or recurrent infections. Defects in humoral immunity predispose to sinopulmonary infections, while defects in cell-mediated immunity lead to fungal and viral infections, including those of the human herpes virus family. Immunologic testing reveals hypogammaglobulinemia and B and CD4 T cell lymphopenia. Management includes excision of thymoma and immunoglobulin replacement.