Genetics
Connections
Genetics plays a key role in our lives as it makes up who we are and affects our survival based on how our DNA sequences are arranged. A mutation is the changing of a sequence or chromosome, which causes a genetic difference that can either be harmful, beneficial, or neither to an organism. Every one of us has mutations; however some can be lifelong challenges for some people. Some mutations that cause genetic disorders in which result in primary immunodeficiency may make people more prone to contracting and dying from healthcare-associated infections, making this a possible concern for nearly 20% of the world's population with some form of genetic disorders who repeatedly receive medical treatment from healthcare facilities. Primary immunodeficiency diseases are genetic diseases that weaken the immune system because of a deficiency in the white blood cells, which can weaken the body when fighting infections. PIDDs primarily follow the x-linked and recessive inheritance patterns; however, there have been dominant inheritance patterns. Gene therapies as well as stem cell therapies are possible treatments for PIDDs, but there is no known cure for these genetic diseases.
Common PIDDs
Chronic Granulomatous Disease
CGD is a genetic disease that prevents nuetrophils from producing hydrogen peroxide, which is produced in the body in order to kill bacteria and fungi. This can lead to difficulty in fighting off HAIs and cause the extremity of an infection to be more severe. Symptoms primarily include recurring infections and difficulty healing. CGD mainly follows the autosomal recessive inheritance pattern, meaning both parents must have the mutation whether they are carriers or suffer from the disease. However, CGD follows the x-linked inheritance pattern when the CYBB gene is mutated, so this mutation follows the X chromosome and mainly affects boys.
Common Variable Immunodeficiency
CVID is a genetic disease that affects the production of B cells, which are white blood cells that produce the antibodies our bodies need to recognize and fight off viruses, bacteria, and fungi. CVID can be autosomal dominant or recessive, but usually follows no pattern of inheritance as it usually is the product of a random mutation of the gene TNFRSF13B. Symptoms usually include recurring infections and pneumonia which can cause lung disease. Also, autoimmune diseases are common symptoms as well as gastrointestinal issues.
X-linked Severe Combined Immunodeficiency
X-linked SCID is a mutation of the gene ILR2G, which is responsible for producing lymphocytes, which are cells that regulate the immune system and help make antibodies. Without the ability to fight off infection-causing bacteria, viruses, and fungi, many people born with this disease don't survive past their infant years. Symptoms primarily include infections such as thrush and diarrhea as well as growth deficiencies. This genetic disease follows an x-linked inheritance pattern, making males more likely of having this disease than females since they only have one x chromosome.