A231 T2 L11 Severe combined immune deficiency by ALICIA WONG YUAN QI https://padlet.com/21018456_2/yhoxy3crjssr9byk en-us 2022-07-29 03:51:15 UTC 2022-07-29 05:55:40 UTC hello@padlet.com (i) Cause of immunodeficiency, 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545329 Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections. SCID is classified under Primary immunodeficiency as it involves the mutation of genes, and affects the T cells and B cells. To detect for SCID in infants, a SCID newborn screening test is conducted, where T cell receptor excision circles (TRECs) is measured, a byproduct of T-cell development. Because infants with SCID have few or no T cells, the absence of TRECs may indicate SCID.  Doctors evaluate the number and type of T & B cells present to confirm their diagnosis.

SCID can be inherited in an autosomal recessive pattern where both copies of the defected gene is inherited from each parent. An example of this is Adenosine Deaminase deficiency, where the infant lacks the ADA enzyme needed for T cell survival. Another form of SCID is X-linked SCID, where there is a mutation in the gene of the X chromosome and primarily affects male infants. Infants with this mutation will have white blood cells that grow and develop abnormally, causing a low number of T cells and NKCs. Their B cells also do not function.

]]> 2022-07-29 03:53:07 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545329 (ii) Explain which branch of immunity is affected (e.g. innate, adaptive etc.), 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545565 Adaptive immunity is affected. This is because it affects the T and B cells which are parts of the immune system in charge of responding to various infections. Individuals with the disease will struggle with such infections.]]> 2022-07-29 03:53:23 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545565 (iii) Symptoms, 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545641 Symptoms of SCID occur in infancy and include serious or life-threatening infections, especially viral infections, which may result in pneumonia and chronic diarrhea. Candida (yeast) infections of the mouth and diaper area and pneumonia caused by the fungus Pneumocystis jirovecii also are common. 

Other common infections include:
-Repeated ear infections
-Meningitis
-Blood infection
-Chronic skin infections
-Liver infection (hepatitis)]]> 2022-07-29 03:53:33 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545641 (iv) Available treatments 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545725 The most common and best treatment for this disease is an allogeneic bone marrow transplant, which introduces normal infection-fighting cells into the child's body, to correct the immunodeficiency. An allogeneic bone marrow transplant involves taking cells from the bone marrow (the soft, spongy tissue found in bones) of a healthy donor and giving them to a child after the child’s diseased bone marrow has been eliminated. For some forms of SCID, particularly X-linked SCID, gene therapy can be a successful treatment. In gene therapy, stem cells are drawn from the patient's bone marrow, the normal gene is inserted using a carrier known as a vector, and the repaired cells are given back to the patient.

Another treatment for SCID would be hematopoietic (blood-forming) stem cells. Stem cells from a sibling with a near tissue match are given to infants with SCID. Infants may get stem cells from a parent or an unrelated donor if a matched sibling is not available. However, transplants from matched siblings result in the best recovery of immunological function. Although these transplants can save lives, they frequently only partially restore immunity. 

One of the other treatments available is (IVIG) Immunoglobulin replacement. It is a substance made from human blood plasma that contains antibodies to protect the body against disease.  When a child with SCID is given immunoglobulin replacement, the child’s body uses the antibodies from the donated blood to help prevent illness.
However, Immunoglobulin replacement offers short-term protection from certain diseases — and can be customized — and helps people who have trouble making their own antibodies.

Children who have SCID with ADA deficiency have been treated somewhat successfully with enzyme replacement therapy (Enzyme Therapy) called PEG-ADA. This therapy is used to repair the defective adenosine deaminase protein, allowing cells within the body to recover and begin combating infections. Enzyme therapy is given by injection and can have long-term benefits for some children with SCID.

]]> 2022-07-29 03:53:43 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251545725 Links & Videos! uWu 210102082 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251546353 https://www.niaid.nih.gov/diseases-conditions/severe-combined-immunodeficiency-scid#:~:text=Severe%20combined%20immunodeficiency%20(SCID)%20is,highly%20susceptible%20to%20severe%20infections.

https://www.chop.edu/conditions-diseases/severe-combined-immunodeficiency-scid

https://youtu.be/yLqhEZKxsoo ]]> 2022-07-29 03:54:26 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251546353 Diagram 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251549546 2022-07-29 03:57:31 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251549546 21018456_2 https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251556458 2022-07-29 04:04:12 UTC https://padlet.com/21018456_2/yhoxy3crjssr9byk/wish/2251556458