Pure Red Cell Aplasia and Other Haematological Diseases Associated With Thymoma: A Case Series and Systematic Review

Background: Thymoma-associated haematological diseases (HDs), such as pure red cell aplasia (PRCA) and Good's syndrome, are extremely rare, and due to the paucity of large-scale studies, the characteristics, remission after thymectomy, and long-term evaluation remain undetermined.Methods: We retrospectively assessed patients with thymoma and associated HDs from Jan 2005 to Dec 2020. All patients received thymectomy and/or additional treatments for HDs. A comparison with thymoma-associated myasthenic gravis (MG), and a systematic review from PubMed/MEDLINE and Embase were conducted.Results: In the median follow-up of 56 months, 130 patients were enrolled. Patients with thymoma-associated MG (n = 46) and HDs [n = 8; PRCA (n = 5), PRCA and Good's syndrome (n = 2) and autoimmune haemolytic anaemia (n = 1)] were evaluated. Patients with MG had a significantly higher remission rate after thymectomy (50 vs. 17%; p = 0.0378) as compared to those with other autoimmune diseases. Two of seven patients with PRCA experienced remission with thymectomy alone, and an additional two patients achieved remission with thymectomy plus immunosuppressive therapy (IST). In the systematic review, 60 studies (case reports, n = 46; case series including the present study, n = 14) were evaluated. Forty-four percent of patients were diagnosed with PRCA after thymoma, and 61% achieved remission with thymectomy plus IST; however, Good's syndrome was unaffected.Conclusions: Our study indicates that patients with thymoma-associated autoimmune diseases other than MG have a lower remission rate than those with MG. Remission of thymoma-associated PRCA can be achieved by thymectomy and IST. This study provides insight into extremely rare but puzzling autoimmune manifestations.

A Case of Severe COVID-19 in a Patient with Good's Syndrome

Good’s syndrome is a rare adult-onset combined immunodeficiency. The association of hypogammaglobulinaemia with a history of recurrent infectious or autoimmune manifestations in a middle-aged patient with evidence of a mediastinal mass should lead to the clinical suspicion of Good’s syndrome. The mortality rate associated with infectious complications is high. Thus, although it is rare, the disease should be diagnosed early so that proper treatment can be started. Thymectomy and immunoglobulin replacement are the main therapeutic strategies. We describe the case of a patient with a history of thymoma and recurrent respiratory infections, with a late diagnosis of Good’s syndrome in the context of severe organizing pneumonia secondary to COVID-19.

Good’s syndrome – Nothing Good about it: A Case Report.

We report a rare case of Good’s Syndrome (GS) or thymoma with immunodeficiency in a 48-year-old male patient. This condition presents in the fourth or fifth decade of life. GS should be suspected in a person presenting with recurrent bacterial infections with encapsulated organisms and opportunistic viral and fungal infections in the setting of thymoma, hypogammaglobulinemia and reduced or absent B cells. Our patient presented with chronic diarrhoea for the past three years, repeated esophageal candidiasis and a superior anterior mediastinal mass. Duodenal biopsy showed CMV duodenitis. Lab investigations revealed low IgM levels [hypogammaglobulinemia] and the biopsy from the mediastinal mass was consistent with thymoma. This case is being written to highlight that unexplained repeated opportunistic microbial infections should prompt the clinician to suspect immunodeficiency in the background of a negative HIV status and to emphasize that GS is one of the causes of adult-onset immunodeficiency where early recognition and treatment can improve and alter the course of the disease as GS carries a worse prognosis compared to XLA [X-linked agammaglobulinemia] and CVID [common variable immunodeficiency].

Variable clinical characteristics and laboratory results in five patients with Chinese Good's syndrome (thymoma and hypogammaglobulinemia): an 8-year retrospective analysis in a university hospital in China

Background Good's syndrome (GS) is a rare secondary immunodeficiency disease presenting as thymoma and hypogammaglobulinemia. Due to its rarity, the diagnosis of GS is often missed. Methods We used the hospital information system to retrospectively screen thymoma and hypogammaglobulinemia patients at the First Affiliated Hospital of Wenzhou Medical University from Apr 2012 to Apr 2020. The clinical, laboratory, treatment, and outcome data for these patients were collected and analyzed. Results Among the 181 screened thymoma patients, 5 thymoma patients with hypogammaglobulinemia were identified; 3 patients had confirmed diagnoses of GS, and the other 2 did not have a diagnosis of GS recorded in the hospital information system. A retrospective review of the clinical characteristics, laboratory results, and follow-up data for these 2 undiagnosed patients confirmed the diagnosis of GS. All 5 GS patients presented with pneumonia, 2 patients presented with recurrent skin abscesses, 2 patients presented with recurrent cough and expectoration, 1 patient presented with recurrent oral lichen planus and diarrhea, and 1 patient presented with tuberculosis and granulomatous epididymitis. In the years after the diagnosis of hypogammaglobulinemia with mild symptoms, all 5 patients had received irregular intravenous immunoglobulin (IVIG) treatment. As the course of the disease progressed, the clinical symptoms of all patients worsened, but the symptoms were partly resolved with IVIG in these patients. However, 4 patients died due to comorbidities. Conclusion GS should be investigated as a possible diagnosis in thymoma patients who present with hypogammaglobulinemia, especially those with recurrent opportunistic infections, recurrent skin abscesses, chronic diarrhea, or recurrent lichen planus.