Thymoma with immunodeficiency

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Thymoma with immunodeficiency
Other namesGood syndrome

Thymoma with immunodeficiency (also known as "Good syndrome") is a rare disorder that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and benign thymoma may develop almost simultaneously. [1] :86Most reported cases are in Europe, though it occurs globally.

Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are produced in the blood. This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency, or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria. Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of live vaccines, and take precautionary measures when traveling to regions with endemic disease or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuation of any immunoglobulin infusions needed.

Cell-mediated 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 response to antigen. Historically, the immune system was separated into two branches: humoral immunity, for which the protective function of immunization could be found in the humor and cellular immunity, for which the protective function of immunization was associated with cells. CD4 cells or helper T cells provide protection against different pathogens. Naive T cells, mature T cells that have yet to encounter an antigen, are converted into activated effector T cells after encountering antigen-presenting cells (APCs). These APCs, such as macrophages, dendritic cells, and B cells in some circumstances, load antigenic peptides onto the MHC of the cell, in turn presenting the peptide to receptors on T cells. The most important of these APCs are highly specialized dendritic cells; conceivably operating solely to ingest and present antigens.

Thymoma A thymus cancer that derives from epithelial cells located in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.

A thymoma is a tumor originating from the epithelial cells of the thymus that may be benign or malignant. Thymomas are frequently associated with the neuromuscular disorder myasthenia gravis; thymoma is found in 20% of patients with myasthenia gravis. Once diagnosed, thymomas may be removed surgically. In the rare case of a malignant tumor, chemotherapy may be used.


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 sixth decade of life (later than other primary immunodeficient states). Few patients are diagnosed with thymoma prior to the manifestation of immunodeficiency.

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-lymphocytes then attack the B cell precursors in the marrow, preventing maturation and ultimately resulting in hypogammaglobulinemia.

Good Syndrome is associated with other autoimmune conditions including pure red cell aplasia and myasthenia gravis.

Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of anemia affecting the precursors to red blood cells but not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple etiologies that can cause PRCA. The condition has been first described by Paul Kaznelson in 1922.

Myasthenia gravis Human disease

Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.


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



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. Some consider Good Syndrome to be a subset of common variable immunodeficiency (CVID).

Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA. Generally symptoms include high susceptibility to foreign invaders, chronic lung disease, and inflammation and infection of the gastrointestinal tract. However, symptoms vary greatly between people. CVID is a lifelong disease.


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

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 in the thymus. Anecdotal evidence suggests MG patients with no evidence of thymoma may still benefit from thymectomy, thus the procedure is commonly prescribed.

The Centers for Disease Control and Prevention recommend pneumococcal, meningococcal, and Hib vaccination in those with diminished humoral and cell-mediated immunity.

Centers for Disease Control and Prevention government agency

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

Pneumococcal vaccine vaccine against Streptococcus pneumoniae

Pneumococcal vaccines are vaccines against the bacterium Streptococcus pneumoniae. Their use can prevent some cases of pneumonia, meningitis, and sepsis. There are two types of pneumococcal vaccines: conjugate vaccines and polysaccharide vaccines. They are given by injection either into a muscle or just under the skin.

Meningococcal vaccine refers to any of the vaccines used to prevent infection by Neisseria meningitidis. Different versions are effective against some or all of the following types of meningococcus: A, B, C, W-135, and Y. The vaccines are between 85 and 100% effective for at least two years. They result in a decrease in meningitis and sepsis among populations where they are widely used. They are given either by injection into a muscle or just under the skin.

Some have advocated prophylaxis with trimethoprim-sulfamethoxazole if CD4 counts are lower than 200 cells/mm^3, similar to HIV/AIDS patients.

See also

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  1. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN   0-7216-2921-0.
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