metrostate-bb.blackboard.com e Search Student Hub | MSU Denver Case Study 2: The
ID: 192865 • Letter: M
Question
metrostate-bb.blackboard.com e Search Student Hub | MSU Denver Case Study 2: The Case of Ruby Rhod Due: In class March 6,2018 20pts Case Study #2: The Case of Ruby Rhod: Severe Immunodeficiency from Loss of B and T Cells At birth, Ruby seemed to be a normal healthy baby. However, soon after birth, his mother noticed that he developed numerous abnormalities with his health, including numerous pus-filled blisters. He was admitted to the hospital, where his condition rapidly worsened He developed enlarged lymph nodes in his neck, armpits, and groin. Medical personnel identified both Staphylococcus aureus and Candida albicans in pus from the blisters. He also showed signs and symptoms of staphylococcal and fungal infections over his body, including in his throat and on his skin. Antibacterial and antifungal treatment was initiated; however, blood tests were completed as well. The blood panel results revealed an absence of B cells and non-functioning T cells. Genetic testing was performed to identify cause of this deficiency in his B and T cells. RAG1 and RAG2 genes were sequenced and a deleterious mutation was identified in the genes, which caused the loss of B and T cells Ruby was diagnosed with Omenn Syndrome, a form of Severe Combined Immunodeficiency (SCID). While identifying the medical cause for Ruby's ailment, he developed a severe case of pneumonia caused by Pneumocystis jiroveci, which ultimately led to his death. 1. What is SCID? What are the various forms of SCID? How do these arise? There are 2. What is Omenn Syndrome specifically? What are symptoms of Omenn Syndrome 3. What are typical symptoms associated with SCID? Are Ruby's symptoms 4. How are RAG1 and RAG2 involved in B and T cell development? Why would a 5. What form of treatment would need to be provided to someone who has this over 10 forms of SCID..a table may be used for this answer. and how does it arise? I characteristics of someone afflicted with SCID? deleterious mutation in these genes result in SCID? deficiency?Explanation / Answer
1. SCID: this is a immunodeficiency syndrome, severe combined immunodeficiency, which is a rare disorder, which is as a result of improper development of the T cells as well as the functional B cells. This occurs as a result of n number of genetic mutations. In SCID, there would be defective responses to the defected antibodies, either improper activation of B lymphocytes or through direct activation. As a result, the adaptive immune system is completely impaired attributing this to the genetic defects. The different forms of SCID are X linked scid, ADD adenosine deaminase deficiency, PNP- purine nucleoside phosphorylase deficiency’, omenn syndrome, reticular dysgenesis, JAK3, bare lymphocyte syndrome and DCLRE1C.
2. Omenn syndrome is an scid, which is autosomal recessive, And they have mutations which as hypomorphic missense. These are important in the T-cell activation. In manufacturing immunoglobulins, recombinase enzymes will be used, that are obtained from the RAG1 and RAG2 genes. The first stage of V(D)J recombination use these enzymes. Mutations occur in the RAG1 and RAG2 genes, which would not allow V(D)J recombination, resulting in SCID. Symptoms are chronic inflammation, swollen infection in lymph nodes, eosinophilia, diarrhoea, low levels of immunoglobulin. Failure to thrive, swollen spleen and low T cells.
3. Symptoms are virals, fungal or severe bacterial infections, in early age. Presence of chronic diarrhoea, lung diseases, ear infections, pneumonia, and oral candidiasis.
4. RAG1 and RAG2 are the genes that are responsible in activation of recombination genes for immunoglobulin manufacturing. The first stage of V(D)J recombination is carried out through these genes, where the initial segments of B cells and T cells would be rearranged for creation of new receptors of T cells or B cells. For B cells, templates for antibodies also require these genes.
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.