Concept explainers
To determine: The treatment options for adenosine deaminase (ADA)-deficient severe combined immunodeficiency disease (SCID).
Introduction: Mr. and Mrs. J were referred to a clinical geneticist because their 6-month-old daughter was not growing appropriately. After the examination, the doctor observed that their daughter had a constant cough, wheeze, and extensive yeast infection. The doctor also took a blood test and determined that their daughter has suffered from SCID. It was also found that their daughter had inherited mutant allele for SCID from the parents.
Explanation of Solution
According to the case study, both the parents have the heterozygous mutant allele for ADA deficiency. The daughter has received both the mutant alleles from both father and mother and has become homozygous for the condition. ADA-deficient SCID is an immunodeficiency disorder. This condition causes a reduction in the synthesis of immune cells. In the absence of immune cells, the person would become immunocompromised. A person with ADA-SCID would become susceptible to infections. The possible treatment of this disease can be done by medicating the person with immune-modulating drugs.
Gene therapy is also a good option for the treatment of ADA-SCID. Using gene therapy, the gene of adenosine deaminase deficiency is replaced with normal genes. This would stimulate the immune system and improve the condition of the patient. However, the success rate of gene therapy is very low. In order to prevent the patient from infections, the patient must be kept in a sterile environment. However, there is no appropriate treatment for ADA-SCID that can cure this disease.
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Chapter 17 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
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- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning