Severe Combined Immune System

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The immune system is responsible for protecting us from external pathogenic attack. Humans are born with an innate immune system where the white blood cells help to fight against disease causing agents. Overtime they acquire adaptive immunity. A genetic condition where mutation disrupts the innate immune system is known as Severe combined immune deficiency. It is a X-linked primary genetically inherited condition where the newborn child has a non working immune system and is susceptible to all diseases with no defense. The disease was first diagnosed around 60 years ago when some infants were born exceptionally lymphopenic and died at early age. The disorder in the immune system is caused by T cells, B cells or NK cells of the white blood cells …show more content…

This is the most commonly occuring SCID of all the different types. This is caused by the mutation on the T cell growth factor receptor on the X chromosome. As the receptor for the T cells growth factor is absent the T cells are not present or inhibited. As T cells are absent the immunity by the white blood cells go down.
Adenosine Deaminase Deficiency
This is caused by mutation of gene that activates an enzyme called the adenosine deaminase (ADA). ADA is important for the metabolic function of the body and for T-cells to function. Te enzyme regulation is important to ensure metabolic by products removal from the body. If metabolic by products are accumulated in the body, lymphocytes accumulate them and are denatured. ADA SCID is inherited as an autosomal recessive trait. Male and females are both affected by this type of SCID.
Deficiency of CD45
This SCID is caused because of the mutation in the gene encoding CD45 protein. This protein is found on the surface of all white cells which are necessary for T-cell to function. This type of CD45 protein formation problem is inherited by an autosomal recessive trait therefore is common in both males and …show more content…

The most common cure for SCID is considered gene therapy. According to a study by a PhD thesis by Doctor Marshall William Huston Gene therapy for SCID is done based on the use of complementary DNA containing a defective γc Moloney retrovirus–derived vector and ex vivo infection of CD34+ cells. In his study after a 10-month follow-up period, γc transgene–expressing T and NK cells were detected in two patients. T, B, and NK cell counts and function, including antigen-specific responses, were comparable to those of age-matched controls. Thus, from his study in 2013, gene therapy was able to provide full correction of disease phenotype and, hence, clinical benefit. (Cavazzana-Calvo M, Hacein-Bey S, De Saint Basile G et al.) Hematopoietic stem cell transplantation could also be used for SCID therapy in to provide healthy lymphocyte cells to a child. Another study done was the retroviral insertion near LMO2 in SCID-XI gene to treat SCID patients. Immunoglobulin treatment can also be used on SCID patients to increase immunity in

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