Bare Lymphocyte Syndrome refers to a group of rare genetic disorders characterized by a deficiency or absence of major histocompatibility complex (MHC) class I or class II molecules on the surface of immune system cells called lymphocytes. These molecules play a crucial role in the recognition and presentation of antigens to activate an immune response against harmful pathogens.
In individuals with Bare Lymphocyte Syndrome, the absence or reduced expression of MHC molecules impairs the immune system's ability to recognize and respond to foreign substances, including bacteria, viruses, and other microorganisms. This deficiency severely compromises the body's ability to mount an effective immune response, leading to increased susceptibility to infections.
Bare Lymphocyte Syndrome is divided into two subtypes, Bare Lymphocyte Syndrome type I and type II, depending on the affected MHC class. Type I is characterized by a deficiency of MHC class I molecules, while type II is characterized by a deficiency of MHC class II molecules.
Symptoms of the syndrome may include recurrent infections, failure to thrive, and increased susceptibility to autoimmune disorders. Treatment options for Bare Lymphocyte Syndrome mainly focus on managing and preventing infections through the use of antibiotics, antiviral medications, and immunoglobulin replacement therapy when necessary.
Genetic counseling is an important component in managing the syndrome, as it can help affected individuals and their families understand the inheritance pattern and make informed decisions regarding family planning.
