Bare lymphocyte syndrome is a disease resulting from severely receded gene conditions. Bare lymphocyte syndrome, which results from deficiencies in the major histocompatibility complex, is broken down into Type 1 and Type 2.
Major histocompatibility complex is a large gene family that can be found in most vertebrates. Type 2, which is linked to the major histocompatibility complex class II, is a rare recessive genetic condition. This results in a compromised and inefficient immune system, which is also known as a severe combined immunodeficiency. Bare lymphocyte syndrome can cause patients to be extremely vulnerable to infectious disease.
The genetic basis for BLSII is not due to faults in the MHC II genes themselves. The genetic basis is the result of mutations in genes that code for proteins (transcription factors) that normally regulate the expression (gene transcription) of the MHC II genes . That is, one of the several proteins that are required to switch on MHC II genes in various cells types (primarily those in the immune system) is absent. Victims can suffer from ear infections, chronic diarrhea and even different types of pneumonia. However, while it may seem that bare lymphocyte syndrome is caused by MHC II gene defects it is not actually the genetic basis for the disorder.
The source of bare lymphocyte syndrome outcome is from protein coded genes that are changed and are not able to properly regulate the expression of the MHC II genes. Currently, the only treatment for bare lymphocyte syndrome is a bone marrow transplant. There may be future hope, nevertheless, for other types of treatment. Bare lymphocyte syndrome type II is considered a possible candidate for gene therapy. BLSII is an attractive candidate for gene therapy. Gene therapy would insert genes into an individual's cells and tissues to treat the bare lymphocyte syndrome and replace the deficient cells.
