A 9-month-old boy is brought to the immunology clinic for evaluation. Clinical history notes thatthe patient has a three-month history of recurrent bouts of otitis media, sinusitis,bronchopneumonia, and gastroenteritis. Serum protein electrophoresis reveals depressed levels ofall serum immunoglobulins.1. What is the most likely diagnosis?2. What is the genetic defect? State the molecular and cellular consequences.3. What organisms will likely be found in the patient’s respiratory tract? What organisms willlikely be found in the patient’s gastrointestinal tract?Over the next two years, the boy develops arthritis. Treatment with replacement immunoglobulinsrelieves the symptoms.4. What is the rationale for the intravenous immunoglobulin therapy?235. Refer to the patient’s pedigree. Identify the inheritance pattern.6. The female individuals could be affected by this condition under what circumstance?24NeoplasiaCase 1:A 62-year-old woman had her uterus removed for uterine prolapse and urinary incontinence. Apedunculated mass, 3 cm in diameter, was found inside the uterus, 5 cms from the internal os. Cutsections of the mass revealed solid, whorled, cream tan surface.Refer to slide #Guide Questions:1. Illustrate the tumor. Give your histopathological diagnosis and describe the microscopicfeatures.2. What feature/s in this tumor suggests that it is likely to be a benign neoplasm?253. What feature/s in this kind of tumor would lead a pathologist to think it may be a malignantneoplasm?
Question
A 9-month-old boy is brought to the immunology clinic for evaluation. Clinical history notes thatthe patient has a three-month history of recurrent bouts of otitis media, sinusitis,bronchopneumonia, and gastroenteritis. Serum protein electrophoresis reveals depressed levels ofall serum immunoglobulins.1. What is the most likely diagnosis?2. What is the genetic defect? State the molecular and cellular consequences.3. What organisms will likely be found in the patient’s respiratory tract? What organisms willlikely be found in the patient’s gastrointestinal tract?Over the next two years, the boy develops arthritis. Treatment with replacement immunoglobulinsrelieves the symptoms.4. What is the rationale for the intravenous immunoglobulin therapy?235. Refer to the patient’s pedigree. Identify the inheritance pattern.6. The female individuals could be affected by this condition under what circumstance?24NeoplasiaCase 1:A 62-year-old woman had her uterus removed for uterine prolapse and urinary incontinence. Apedunculated mass, 3 cm in diameter, was found inside the uterus, 5 cms from the internal os. Cutsections of the mass revealed solid, whorled, cream tan surface.Refer to slide #Guide Questions:1. Illustrate the tumor. Give your histopathological diagnosis and describe the microscopicfeatures.2. What feature/s in this tumor suggests that it is likely to be a benign neoplasm?253. What feature/s in this kind of tumor would lead a pathologist to think it may be a malignantneoplasm?
Solution
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The most likely diagnosis for the 9-month-old boy with recurrent bouts of otitis media, sinusitis, bronchopneumonia, and gastroenteritis, along with depressed levels of all serum immunoglobulins, is a primary immunodeficiency disorder.
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The genetic defect in this case is likely to be a mutation in a gene involved in the production or function of immunoglobulins. This defect leads to a molecular consequence of decreased or dysfunctional immunoglobulins, resulting in a cellular consequence of impaired immune response.
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In the patient's respiratory tract, organisms commonly associated with respiratory infections, such as Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis, may be found. In the gastrointestinal tract, organisms like Escherichia coli, Salmonella species, and Campylobacter species may be present.
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The rationale for intravenous immunoglobulin therapy in this case is to provide the patient with replacement immunoglobulins, which can help boost their immune response and prevent recurrent infections.
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Based on the patient's pedigree, the inheritance pattern of this condition appears to be autosomal recessive, as affected individuals are born to unaffected parents.
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Female individuals could be affected by this condition if they inherit two copies of the mutated gene, one from each carrier parent. In this case, both male and female individuals can be affected by the condition.
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