Expert Reviewed By: Dr. Brandon Colby MD
Immunodeficiency 18 is a severe combined immunodeficiency (SCID) variant that affects the immune system, leaving individuals highly susceptible to infections. Understanding, diagnosing, and using genetic testing for this condition is crucial for early intervention and treatment. This article delves into the recent studies and advances in the field, exploring the role of genetic testing in managing this life-threatening disorder.
Understanding Immunodeficiency 18
Immunodeficiency 18 is a rare genetic disorder characterized by a severely compromised immune system. Affected individuals have little or no ability to fight off infections, making them highly vulnerable to recurrent and severe infections. SCID variants, including Immunodeficiency 18, are caused by mutations in specific genes that play a crucial role in the development and function of immune cells.
Diagnosing Immunodeficiency 18
Early diagnosis is vital for the effective management of Immunodeficiency 18. Genetic testing plays a central role in diagnosing this condition. Recent studies have identified novel pathogenic variants in genes such as NHEJ1 and RAG1, which are associated with SCID phenotypes. These findings enrich the spectrum of known gene variants and contribute to a better understanding of the disease.
Using TRECs/KRECs for Diagnosis
Another diagnostic tool for SCID is the measurement of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). These small DNA circles are produced during the development of T and B cells, respectively. A recent article discusses the use of TRECs/KRECs in diagnosing severe combined immunodeficiency, highlighting their potential in early detection and intervention.
Using Genetic Testing for Treatment and Management
Genetic testing not only aids in diagnosing Immunodeficiency 18 but also plays a pivotal role in treatment and management. Once the specific gene mutation is identified, appropriate treatment options can be considered. Hematopoietic stem cell transplantation (HSCT) is a common treatment for SCID, as demonstrated by the successful transplantation in a patient with a novel NHEJ1 pathogenic variant (source).
Alternative Donor HCT for ADA-SCID
Adenosine deaminase (ADA) deficient SCID is another form of SCID that can be treated with hematopoietic stem cell transplantation. A recent study evaluated the outcomes of 131 ADA-SCID patients and suggested that alternative donor HCT may be considered when matched sibling donor (MSD) or matched family donor (MFD) HCT and gene therapy (GT) are not available. This finding highlights the importance of genetic testing in determining the best treatment approach for different SCID variants.
Conclusion
Understanding, diagnosing, and using genetic testing for Immunodeficiency 18 and other severe combined immunodeficiency variants is crucial for early intervention and effective management of these life-threatening disorders. Advances in genetic testing have led to the identification of novel gene variants and improved diagnostic tools, such as TRECs/KRECs. Furthermore, genetic testing plays a vital role in determining appropriate treatment options, ultimately improving the quality of life and survival rates for affected individuals.
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)