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 ...
recommend
pneumococcal
''Streptococcus pneumoniae'', or pneumococcus, is a Gram-positive, spherical bacteria, alpha-hemolytic (under aerobic conditions) or beta-hemolytic (under anaerobic conditions), aerotolerant anaerobic member of the genus Streptococcus. They are ...
,
meningococcal
''Neisseria meningitidis'', often referred to as meningococcus, is a Gram-negative bacterium that can cause meningitis and other forms of meningococcal disease such as meningococcemia, a life-threatening sepsis. The bacterium is referred to as a ...
, and
Hib vaccination in those with diminished humoral and cell-mediated immunity.
Some have advocated prophylaxis with
trimethoprim-sulfamethoxazole
Trimethoprim/sulfamethoxazole, sold under the brand name Bactrim among others, is a fixed-dose combination antibiotic medication used to treat a variety of bacterial infections. It consists of one part trimethoprim to five parts sulfamethoxaz ...
if CD4 counts are lower than 200 cells/mm^3, similar to
HIV/AIDS
Human immunodeficiency virus infection and acquired immunodeficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV), a retrovirus. Following initial infection an individual ...
patients.
See also
*
Skin lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ...
References
External links
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Noninfectious immunodeficiency-related cutaneous conditions
Predominantly antibody deficiencies
Syndromes affecting immunity
Syndromes with tumors