Unraveling the Mysteries of Bare Lymphocyte Syndrome Type II, Complementation Group C: A Comprehensive Guide

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Bare lymphocyte syndrome (BLS) is a group of rare genetic disorders that affect the immune system. Type II BLS, complementation group C, is a specific subtype of this condition characterized by the absence of major histocompatibility complex (MHC) class II molecules on the surface of immune cells. This absence leads to a weakened immune system and increased susceptibility to infections. In this article, we will explore the intricacies of this rare disease, focusing on understanding its genetic basis, diagnosis, and the potential benefits of genetic testing.

Understanding the Genetics Behind Bare Lymphocyte Syndrome Type II, Complementation Group C

The genetic mutations responsible for BLS Type II, complementation group C, have been identified in a number of studies. One such study, titled “Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome”, discovered a homozygous loss-of-function mutation in the RFXANK gene. This mutation expands the phenotype associated with the loss of RFXANK to include progressive neurodegenerative disease.

Another study, “Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report”, reported novel mutations in the CIITA gene of BLS II. These findings contribute to the diagnosis, treatment, genetic counseling, and prenatal diagnosis of the syndrome.

Lastly, a study titled “Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome” demonstrated that molecular defects silencing class II structural gene transcription result in a defective antigen-presenting cell (APC) phenotype. This provides evidence for the coregulation of these two functionally linked pathways.

Diagnosing Bare Lymphocyte Syndrome Type II, Complementation Group C

Diagnosing BLS Type II, complementation group C, involves a combination of clinical examination, laboratory testing, and genetic analysis. Clinicians will look for signs of recurrent infections and immune system dysfunction. Laboratory tests will assess the presence of MHC class II molecules on the surface of immune cells. Finally, genetic testing can confirm the presence of mutations in the RFXANK or CIITA genes.

Genetic Testing and Its Benefits for Bare Lymphocyte Syndrome Type II, Complementation Group C

Genetic testing can be a valuable tool in the diagnosis and management of BLS Type II, complementation group C. Some of the key benefits of genetic testing for this condition include:

1. Confirming the Diagnosis

Identifying the specific genetic mutations responsible for BLS Type II, complementation group C, can confirm the diagnosis and help differentiate it from other immune system disorders. This information can guide treatment decisions and help clinicians provide the most appropriate care.

2. Genetic Counseling

Genetic testing can provide important information for individuals and families affected by BLS Type II, complementation group C. Genetic counselors can help explain the inheritance patterns of the condition and the risks of passing it on to future generations. This information can be invaluable for family planning and decision-making.

3. Prenatal Diagnosis

For families with a known history of BLS Type II, complementation group C, prenatal genetic testing can provide early information about the health of an unborn child. This can help parents and healthcare providers make informed decisions about pregnancy management and care for the baby after birth.

4. Advancing Research and Treatment

Genetic testing contributes to our understanding of the underlying genetic mutations and molecular pathways involved in BLS Type II, complementation group C. This knowledge can help researchers develop new treatments and therapies for this rare and complex condition.

In conclusion, understanding the genetic basis of Bare Lymphocyte Syndrome Type II, complementation group C, is crucial for accurate diagnosis and effective management of the condition. Genetic testing can provide valuable information for affected individuals and their families, guiding treatment decisions and facilitating genetic counseling and prenatal diagnosis. As our knowledge of this rare disease continues to grow, so too will our ability to provide the best possible care for those affected.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)