At birth, Ruby seemed to be a normal healthy baby. He gained weight normally and
ID: 163785 • Letter: A
Question
At birth, Ruby seemed to be a normal healthy baby. He gained weight normally and cried vigorously. 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 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 B and T cells. RAG1 and RAG2 genes were sequenced and a deleterious mutation was identified in the a form genes, which caused the loss Ruby was diagnosed with Omenn of Severe Combined Immunodeficiency (SCID). While identifying the medical cause for Ruby's ailment, he developed a severe case of pneumonia caused by Pneumocystis which ultimately led to his death. What is SCID? What are forms of SCID (a table may be used for this answer)? What is Omenn Syndrome specifically? What are typical symptoms associated with SCID? Are Ruby's symptoms characteristics of someone afflicted with SCID? How are RAG1 and RAG2 involved in B and T cell development? Why would a deleterious mutation in these genes result in SCID? What form of treatment would need to be provided to someone who has this deficiency?Explanation / Answer
Answer (1) expanded as severe combined immunodefeiciency disease(SCID) is a genetic disorder present at birth. affected individual have little or no immunity. it is generally a group of disease which affect immune system of affected ndividuals. various types of SCID are found on the basis of mutation present in gene, x-linked , autosomal and on lymphocyte phenotypes(T,B & NK cells):
Omenn syndrome is n autosomal recessive SCID marked with absence of B& T-cells due to mutation in RAG1& RAG2 genes. cutaneous disorders including bacterial and fungal disaese with hepatosplenomegaly is commonly seen in new born.
Answer (2) typical symptoms associated with SCID are:
as Ruby was not responding to any drug and was suffering from cutaneous infections as well as pneumonia thus, her symptoms were matching with that of SCID.
Answer (3) both RAG1 and RAG 2 are involved in V(D) J gene arrangement which resullts in developing B and T cells diversity thus their mutation leads to no rearrangement of T& B-cells thus which leads to immuno deficiency in affected individuals.
Answer (4) since, it is a genetic defect, it can be treated at early stage of development by replacing defected genes. this type of therapy is called gene replacement therapy. the widely known example of such case is ADA deficiency which is treated early during embryonic development.
SCID types type of inheritance gene lymphocyte phenotype X-linked SCID IL2RG T(-) B(+) NK(-) Autosomal Recessive SCIDs JAK 3 Gene mutation JAK3 T(-) B(+) NK(-) ADA Gene mutation ADA T(-) B(-) NK(-) IL-7R apha chain mutation IL7R alpha T(-) B(+) NK(+) CD 3 delta or epsilon mutation CD3 T(-) B(+) NK(+) RAG1/2 mutation RAG1/RAG2 T(-) B(-) NK(+) ARTEMIS gene mutation ARTEMIS T(-) B(-) NK(+) CD 45 gene mutation CD 45 T(-) B(+) NK(+)Related Questions
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