Hnc Research Project
Maritza Tinoco
Mrs. Bowers
HNC Disease Project
16 March 2017
Severe Combined Immune Deficiency is a primary immune deficiency that has a defining characteristic of a severe defect in both the T- and B- lymphocyte systems. This deficiency results in the onset of one or more serious infections within the first couple months of life. It may include pneumonia, meningitis, and bloodstream infections. This disease was first reported in 1950 in Switzerland and is best known from 1980s news stories about a “bubble boy” who was born without an immune system. The brother of the “bubble boy” was killed due to the disease, so doctors placed him into a plastic isolation unit to protect him from infections. For 13 years of his lifetime, he remained in the “bubble”, but died in 1984 because of an unsuccessful bone marrow transplant. SCIDs, in some families, was inherited through a recessive gene linked to the X-chromosome, while in others, it was passed on through an autosomal. There are several forms of SCID. The most common type is linked to a problem in a …show more content…
Studies investigating the basic molecular defect causing ADA deficiency were originated when genetic categorizations encoding human ADA were isolated. Using these “clones,” investigators have been able to study and compare the ADA enzyme from ADA-SCID patients with the normal or wild-type ADA enzyme. The most commonly mentioned numeral for the occurrence of SCID is around 1 in 100,000 births, though this is viewed by some to be a miscalculation of the true commonness; some estimates expect that the frequency rate is as high as 1 in 50,000 live births. A numeral of about 1 in 65,000 live births has been reported for Australia. Due to the genetic nature of SCID, a higher prevalence is found in areas and cultures among which there is a higher rate of consanguineous mating. A study conducted upon Moroccan SCID patients reported that inbreeding parenting was observed in 75% of the
Mrs. Bowers
HNC Disease Project
16 March 2017
Severe Combined Immune Deficiency is a primary immune deficiency that has a defining characteristic of a severe defect in both the T- and B- lymphocyte systems. This deficiency results in the onset of one or more serious infections within the first couple months of life. It may include pneumonia, meningitis, and bloodstream infections. This disease was first reported in 1950 in Switzerland and is best known from 1980s news stories about a “bubble boy” who was born without an immune system. The brother of the “bubble boy” was killed due to the disease, so doctors placed him into a plastic isolation unit to protect him from infections. For 13 years of his lifetime, he remained in the “bubble”, but died in 1984 because of an unsuccessful bone marrow transplant. SCIDs, in some families, was inherited through a recessive gene linked to the X-chromosome, while in others, it was passed on through an autosomal. There are several forms of SCID. The most common type is linked to a problem in a …show more content…
Studies investigating the basic molecular defect causing ADA deficiency were originated when genetic categorizations encoding human ADA were isolated. Using these “clones,” investigators have been able to study and compare the ADA enzyme from ADA-SCID patients with the normal or wild-type ADA enzyme. The most commonly mentioned numeral for the occurrence of SCID is around 1 in 100,000 births, though this is viewed by some to be a miscalculation of the true commonness; some estimates expect that the frequency rate is as high as 1 in 50,000 live births. A numeral of about 1 in 65,000 live births has been reported for Australia. Due to the genetic nature of SCID, a higher prevalence is found in areas and cultures among which there is a higher rate of consanguineous mating. A study conducted upon Moroccan SCID patients reported that inbreeding parenting was observed in 75% of the