Severe Combined Immune System

The Human Body is an oasis of life. Still, every waking moment of our lives, our bodies endure vicious attacks. Bacteria, viruses, fungi, microbes, toxins, and parasites - I like to think of them as invaders from the outside world. Each invader is equipped with its own specialized method of attack. On a microscopic level, our bodies fight a life-long war. As the battle rages, our immune system kicks in and protects us against the perils of illness. The immune system is not made up of one particular tissue or organ. Instead, an arsenal of defense cells; including lymphocytes, bone marrow, and leukocytes join forces to keep us healthy. Besides the occasional times we get caught in the crossfire with a common cold, a healthy immune system keeps

The nervous, endocrine, and immune systems share a close relationship critical to maintaining homeostasis during psychological and immune stress (Carlsson, Anneli, Ludvigsson, & Faresjö, 2014). Chronic stress, primarily mediated by the glucocorticoid cortisol, is associated with deleterious health outcomes and immune deficiency. However, acute stress is associated with protective health effects and immune enhancement. Stress has generally been regarded as adaptive when acute and short-term but maladaptive when chronic (Dhabhar, 2006; Carlsson, Anneli, Ludvigsson, & Faresjö, 2014; Johnson, Riley, Douglas, & Riis, 2013; Flinn and England, 2003; Wiegers, Reul, Holsboer, & de Kloet, 1994).

It is an autoimmune condition. It is also inherited and also can be associated with medical conditions.

In the case of diseases such as the DiGeorge syndrome, the immune system activity is not functioning properly due to the abnormal development of the thymus gland inducing a minimized production of T Cell. Whereas, in another case such as asthma, the immune system is overreacting. The other possibility of abnormality of the immune system is the impossibility for it to make a difference between invaders and the body’s cell causing the immune system to attack itself, those are the autoimmune diseases such as multiple sclerosis.1

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

The probability of inheriting a disease is not random. There are several factors that determine the chances on inheriting a disease such as race, gender, genetics, etc. A person of Caucasian decent is more likely to develop cystic fibrosis, an Asian person has a higher chance of inheriting Kawasaki disease and there is a very high rate of Sickle Cell Anemia among people of African lineage. Sickle Cell disease is inherited and it affects the anatomy of the red blood cells, resulting in a sickle shape which then affects the functions of red blood cells causing a blood disorder. Sickle Cell is a recessive disease and persons affected have both copies of the hemoglobin S gene. This genetic defect causes red blood cells to become sickle-shaped (cresent shape). The abnormal shape severely impede the ability of red blood cells to pass through small blood vessels. This impediment caused by the sickle-shaped red blood cells decreases the flow of blood to parts of the body. This reduced blood flow to tissues causes hypoxia and subsequently leads to tissue damage. This alteration in the function of red blood cells is what leads to the complications of sickle cell disease. There are various types of sickle cell disease. The most common types of sickle cell disease are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. Often conflated with sickle cell disease is "Sickle Cell Trait". Sickle cell trait means that a

Sickle cell anemia (SCA) is an inherited blood disease which causes normal, round, healthy red blood cells to transform into sickle-shaped cells. Normal red blood cells are flexible and can easily pass through capillaries to bring oxygen to different parts of the body. However, sickle cells are fragile, and can easily die, leading to anemia (red blood cell deficiency). SCA can also cause blood vessel occlusion (blockage of blood vessels), tissue infarctions (death due to lack of oxygen), bone, joint, and abdominal pain, yellow eyes and skin, pale skin, delayed growth, increased risk of infections, and damage to organs. The disease is passed on by autosomal recessive inheritance, which means both parents of a child must have the defective gene for the child to be affected. If only one gene is inherited, the victim becomes a carrier of the sickle cell trait, producing only some sickle cells with little or no symptoms. This means two people with the trait have a 25% chance of having a baby with sickle cell disease, 25% chance of them having no defects, and 50% chance of the baby becoming a carrier as well. When the gene is inherited, it mutates the beta (β) globin gene in chromosome 11, changing the hemoglobins produced using instructions from the gene from a healthy hemoglobin A (Hb A) to a mutated hemoglobin S (Hb S). Many tests can be done to check for sickle cell disease, the most common being an ordinary blood test, where the blood is examined for hemoglobin S. If the

Even if this disorder is uncommon it’s important to know the basics about it to prevent severe damage in the future. Severe Combined Immunodeficiency (SCID) was first reported by Edward Glanzmann and Paul Riniker in 1950. They were treating two Swiss infants with the condition, lymphopenia, which is an abnormal low level of lymphocytes in the blood. They died of infection within a year. (Buckley). Although, it wasn’t until 1980 when the public became aware of the disorder. There was a well-known baby who was diagnosed with SCID that year. There were a lot of news stories about a “bubble boy” who was born without a working immune system. His brother was also born with the same

Sickle cell anemia (SCA) is an autosomal recessive inherited disease that affects the red blood cells. A person must receive a sickle gene from each parent to have the disease. If a person only receives one gene from either parent, they will have the sickle cell trait.

The method of transmission of this disease is inherited by both parent who have (SCD) so when they produce a child the child will have 2 sickle cell genes.

In their paper, Essential Lymphocytophthisis; New Clinical Aspect of Infant Pathology, the authors observed that Swiss infants who were diagnosed with the condition were profoundly lympopenic and would usually die before they reached their second birthday. Subsequent research on this condition was focused on identifying its inheritance patterns. The research identified two main inheritance patterns, namely, an X-linked recessive mode of inheritance and an autosomal recessive mode of inheritance. Giblett were the first to discover the molecular cause of SDIC, adenosine deaminase deficiency, in 1972 (Giblett, et al., 1972). However, it took researchers almost 21 years to determine the second cause of SCID, that is, X-linked SCID (Puck, et al., 1993). Since then, advances in molecular biology have led to a much wider understanding of SDIC and its other causes. It is now known that the disease can be caused by mutations in more than 10 genes in the human body as well as some other causes that have not yet been identified (Russell, et al., 1995). Thus, the gene products of these mutations are components of cytokine receptors like IL-2, IL-4R, IL-7R, IL-9R, IL-15R, and IL-21R. However, mutations of the IL-2RG receptor accounts for more than 46% of all cases of X-linked SCID. Adenosine deaminase deficiency, on the other hand, is responsible for 16% of all SCID cases, while

Severe Combine Immunodeficiency(SCID) is a disease that infects infants within the first few months of life. Some of these infections can be life threatening. The cause of SCID is usually a defect in the T- & B-lymphocyte systems. SCID is known as the “Bubble Boy Disease”. According to the article The SCID Homepage, “SCID became widely known during the 1970’s and 80’s, when the world learned of David Vetter, a boy with X-linked SCID, who lived for 12 years in a plastic, germ-free bubble.” There are multiple versions of SCID, but the most common form is caused by the X-chromosome. Because this disease only affects the X-chromosome, it can affect male infants.

Sickle Cell disease also known as SCD is a genetic disease of a person’s red blood cells. The shape of a normal person’s RBC is shaped like a disk. This shape of the red blood cells allows for the flexibility that helps the cells move through blood vessels.

Sickle Cell Disease, also referred to as SCD, is a genetically inherited disease that causes abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in red blood cells. This disease currently affects about 90,000-100,000 Americans, a majority being African-American. Because SCD is genetically inherited, it is not contagious. It is inherited when both parents of a child carry the sickle cell trait, also called SCT. SCT and SCD are not the same. In SCT, the person is generally healthy and does not endure what one with SCD does, they are simply a “carrier” of the sickle cell trait. SCD cannot be inherited if only one parent is a carrier. If both parents are carriers of the sickle cell trait, the child still only has a 25% chance of being born with sickle cell. They have a 50% chance of being born with a single trait, making them a carrier, and a 25% chance of being born with normal hemoglobin. About 1 in 13 African-American babies are born as a carrier and 1 in 365 are born with the disease.

Normal RBCs are disc shaped in which they are able to easily travel throughout the body, especially through the tiniest blood vessels. However, with sickled shaped RBCs, they clump together while flowing through these particularly small vessels, which causes the loss of oxygen throughout the tissues and organs. This monogenetic disease is caused by a point mutation in the β- globin gene that creates abnormal Hemoglobin S (HbS). There are five different haplotypes for SCD that are classified by their geographical region