Bare lymphocyte syndrome type II

Bare Lymphocyte Syndrome Type II (BLS II) is a rare genetic disorder that affects the immune system. It is characterized by a severe reduction in the number of Major Histocompatibility Complex (MHC) class II molecules on the surface of cells, which are essential for the immune system to function properly.

Symptoms

The symptoms of BLS II can vary greatly from person to person. However, common symptoms include:

• Frequent and severe infections
• Failure to thrive
• Diarrhea
• Skin rash
• Hearing loss

Causes

BLS II is caused by mutations in one of four genes: CIITA, RFXANK, RFX5, or RFXAP. These genes are involved in the regulation of MHC class II molecules. When these genes are mutated, the number of MHC class II molecules on the surface of cells is significantly reduced, leading to the symptoms of BLS II.

Diagnosis

Diagnosis of BLS II is typically made through a combination of clinical examination and genetic testing. Genetic testing can identify mutations in the CIITA, RFXANK, RFX5, or RFXAP genes, confirming the diagnosis.

Treatment

There is currently no cure for BLS II. Treatment is focused on managing the symptoms and preventing infections. This may include antibiotics, immunoglobulin therapy, and in severe cases, bone marrow transplant.

Prognosis

The prognosis for individuals with BLS II varies. Some individuals may have a normal lifespan with proper management of symptoms, while others may have a shortened lifespan due to complications from frequent infections.

See Also

• Bare Lymphocyte Syndrome Type I
• Major Histocompatibility Complex
• Genetic Disorders
• Immune System Disorders

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