Bare lymphocyte syndrome 2
Bare Lymphocyte Syndrome 2
Bare Lymphocyte Syndrome 2 (pronunciation: bair limf-uh-sahyt sin-drohm too) is a rare immunodeficiency disorder characterized by a reduction in the number of MHC class II molecules on the surface of certain immune cells. The etymology of the term is derived from the observation that the affected immune cells appear "bare" due to the lack of these molecules.
Overview
Bare Lymphocyte Syndrome 2, also known as MHC class II deficiency or HLA class II deficiency, is a type of primary immunodeficiency disease. It is caused by mutations in several different genes that are involved in the regulation of MHC class II gene expression. These mutations lead to a decrease in the number of MHC class II molecules on the surface of B cells and antigen presenting cells, which are crucial for the immune response to pathogens.
Symptoms
The symptoms of Bare Lymphocyte Syndrome 2 typically appear in infancy and include recurrent bacterial infections, viral infections, and fungal infections. Other symptoms may include failure to thrive, chronic diarrhea, and skin rash.
Diagnosis
Diagnosis of Bare Lymphocyte Syndrome 2 is based on clinical findings, laboratory tests showing low levels of MHC class II molecules on immune cells, and genetic testing to identify mutations in the relevant genes.
Treatment
Treatment for Bare Lymphocyte Syndrome 2 typically involves managing the symptoms and preventing infections. This may include antibiotic therapy, immunoglobulin therapy, and in severe cases, hematopoietic stem cell transplantation.
See Also
External links
- Medical encyclopedia article on Bare lymphocyte syndrome 2
- Wikipedia's article - Bare lymphocyte syndrome 2
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