Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is a group of diseases characterized by T-cell counts under 1,500 cells per mm3, which is a phenomenon known as T-cell lymphopenia (TCL) [1, 2]. This inherited primary immunodeficiency leads to the absence of T cells, however B cells or natural killer (NK) cells may be present but are not always functional [4]. The lack of functional immune cells leads to recurrent infections in infancy and childhood and the disease is fatal in the first two years of life if it is not treated [1]. The exact number of babies born each year with SCID is not well known, as different countries have different inclusion practices

This deficiency leaves a person vulnerable to a multitude of different opportunistic infections. At least 14 different genetic defects can cause SCID.

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 Disease (SCD) is an inherited autosomal recessive condition that causes the red blood cells (RBCs) to be crescent shaped. Sickle cell disease occurs in 1 out of every 400 African Americans births (Field, et al 2009). And according to the Centers of Disease Prevention and Control (CDC), 1 out of 13 African American babies are born with the sickle cell trait (SCT). At the same time SCD is present in only 1 out of 300 Caucasian babies, thus it is considered to be one of the most prevalent genetic health disparities affecting people of African, Indian, Hispanic, and Mediterranean decent (Kotch, et al 2000).

hypothesis,” suggests that the autoimmune diseases could be the result of misdirected T cells and a hyperactive immune response. This could result from lack of exposure to pathogens in early life which normally assist in the development of balanced immune system. In particular, infectious agents common in early life, such as

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.

It was reported that Sammy is the only person in the family to have been diagnosed with SCD. While it is not stated here, even though no other family member has presented with SCD, it can be assumed that both of Sammy’s parents have the sickle cell gene. As stated before, two parents with the sickle cell gene have a 25% chance of having a child with SCD. Sammy’s presentation is that of a six-year-old boy weighing only 64 pounds, despite the fact that he is 14-years-old. His size is directly related to his frequent episodes of sickle cell crisis. During a sickle cell crisis, the body’s ability to provide the tissue with proper oxygen and nutrients is impaired.

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.

If the child or adult with such an immune disorder is able to recover from illness and prevent infection in their own home, the quality of their life would greatly increase. The Southern Medical Journal published a study done on hospital patients. Patients who were isolated in the hospital for extremely poor immune systems had a much higher rate of depression and anxiety than patients who did not have to be isolated (Catalano, et. al). Not only are patients isolated from the outside

Severe combined immune deficiency (SCID), is developed by an unusually and recurring severe infection or cancer (2014, Patton & Thibodeau p434). The boy in the bubble immune system is ineffective, feeble, and defenceless against infection. The purpose of isolating him is to keep him free from germs and viruses. Placing him in isolating will provide a sterilized environment with filtered air, to eliminate infections. One way to cure the bubble boy gene is by injecting bone marrow stem cells, into the patient. The bone marrow stem cells contain a missing enzyme gene that can make the immune system healthy. Individuals suffering with this rare disorder may consider a bone marrow transplant. (2014, Patton & Thibodeau) A bone marrow transplant will help cure the disease and prevent it from becoming fatal.

Genetic testing has found various genes in which a mutation can occur to cause SCID. These genes include the JAK3, IL7R, ADA, RAG1, RAG2, DCLRE1C, LIG4, and IL2RG genes. (Lebet et al. 2008) The cytogenic locations of these genes in the order that they are presented above are as follows: 19p13.11 (NIH Genetics Home Reference, 2017e), 5p13.2 (NIH Genetics Home Reference, 2017d), 20q13.12 (NIH Genetics Home Reference, 2017a), 11p12 (NIH Genetics Home Reference, 2017g), 11p12 (NIH Genetics Home Reference, 2017h), 10p13 (NIH Genetics Home Reference, 2017b), 13q33.3 (NIH Genetics Home Reference, 2017f), and Xq13.1 (NIH Genetics Home Reference, 2017c). The greatest number of SCID cases are caused by a mutation of the IL2RG gene. X-linked SCID is

An immunocompromised patient has a weak immune system that is unable to fight infections normally and function properly. An immunocompromised patient is also more liable to catching diseases and viruses because the immune system is incapable to protect itself. " Examples of immunocompromised people are those that have HIV or AIDS, are pregnant, or are undergoing chemotherapy or radiation therapy for cancer." When a patient is born with immunodeficiency is it considered primary disorder which can include disorders like Alymphocytosis and severe combined

As previously stated, Sarcoidosis is a disease of unknown cause, and scientists are continuously researching its exact origins. Scientists know that immune cells emit chemicals that signal other cells to come protect an organ from a toxic substance. Subsequently, this causes inflammation in one’s body. In Sarcoidosis patients, this swelling does not recede but forms granulomas of immune cells on an organ. Some scientists theorize that an external trigger such as bacteria or dust may lead to the onset of symptoms. Also, research strongly supports that Sarcoidosis occurs from the genetic inheritance of mutations in multiple genes. Gene mutations are changes in one or few nucleotides in a single gene. One gene affiliated with Sarcoidosis is gene

The disease happens when the deoxyribonucleic acid (or DNA for short) has a mutation. Now a mutation can be triggered by a number of things to many chromosomes some kind of antibiotic the parent took before finding out they were pregnant. There are too

The second most common form of SCID is Adenosine Deaminase Deficiency (ADA). ADA is an autosomal recessive metabolic disorder that causes an immunodeficiency that is severe enough to be considered SCID. This deficiency is caused by a genetic mutation on the ADA gene. Adenosine Deaminase is an enzyme that breaks down deoxyadenosine into deoxyinosine. The mutation eliminates the use of adenosine deaminase and allows the build-up of deoxyadenosine, which is fatal to lymphocytes. Without lymphocytes, the person cannot fight infections and develop the immune issues associated with SCID. This form of SCID is present in about 15% of cases, and affects only 1 in 200,000 to 1,000,000 newborns worldwide.