Thymoma with immunodeficiency (also known as "Good syndrome") is a rare disorder that occurs in adults in whom

hypogammaglobulinemia Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are produced in the blood (thus '' hypo-'' + ''gamma'' + ''globulin'' + '' -emia''). This results in a lower antibody count, which impairs the immune sys ...

, deficient

cell-mediated immunity Cell-mediated immunity or cellular immunity is an immune response that does not involve antibodies. Rather, cell-mediated immunity is the activation of phagocytes, antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in ...

, and

thymoma A thymoma is a tumor originating from the epithelial cells of the thymus that is considered a rare malignancy. Thymomas are frequently associated with neuromuscular disorders such as myasthenia gravis; thymoma is found in 20% of patients with m ...

(usually benign) may develop almost simultaneously. Most reported cases are in Europe, though it occurs globally. Dr. Robert Good was first to describe the association between thymoma and hypogammaglobulinemia in 1954. Much remains to be understood about its pathogenesis.

Signs and symptoms

Most patients present with an immunodeficient state and recurrent sinopulmonary infections in their 4th or 5th decade of life. The immunodeficiency may occur before or after the diagnosis of a thymoma. Immunodeficiency involves both deficient humoral and cellular immunity. Patients have low total serum antibodies. The thymoma may inhibit the thymus’s normal role in production of self-tolerant T lymphocytes. These

T-lymphocyte A T cell is a type of lymphocyte. T cells are one of the important white blood cells of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell rec ...

s then attack the B cell precursors in the marrow, preventing maturation and ultimately resulting in hypogammaglobulinemia. It is characterized by increased susceptibility to bacterial, viral, and fungal infections.Grammatikos, A., Bright, P., Pearson, J. et al. Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir. J Clin Immunol (2022). https://doi.org/10.1007/s10875-022-01321-6 Good Syndrome is associated with other autoimmune conditions including

pure red cell aplasia Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of aplastic anemia affecting the precursors to red blood cells but usually not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple ...

and myasthenia gravis.

Pathogenesis

The cause of Good Syndrome is unknown. It is thought to be an autoimmune process affecting the bone marrow.

Diagnosis

Definition

There are no formal diagnostic criteria. Generally it can be defined as an adult-onset primary immunodeficiency associated with thymoma, hypogammaglobulinemia, diminished B and T cells, and inverted CD4/CD8+ ratio. It has been suggested that Good Syndrome is a subset of common variable immunodeficiency (CVID).

Treatment

The mainstay of treatment consists of thymectomy and immunoglobulin replacement with intravenous immunoglobulin. Immunodeficiency does not resolve after

thymectomy A thymectomy is an operation to remove the thymus. It usually results in remission of myasthenia gravis with the help of medication including steroids. However, this remission may not be permanent. Thymectomy is indicated when thymoma are present ...

. Immunosuppression is sometimes used. The

Centers for Disease Control and Prevention The Centers for Disease Control and Prevention (CDC) is the national public health agency of the United States. It is a United States federal agency, under the Department of Health and Human Services, and is headquartered in Atlanta, Georgi ...

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, and Hib vaccination in those with diminished humoral and cell-mediated immunity. Some have advocated prophylaxis with

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if CD4 counts are lower than 200 cells/mm^3, similar to

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patients.

References

External links

{{Medical resources , ICD10 = , ICD9 = , ICDO = , OMIM = , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 169105 Noninfectious immunodeficiency-related cutaneous conditions Predominantly antibody deficiencies Syndromes affecting immunity Syndromes with tumors