2/17/24, 3:50 AM Case Study on MHC 11 Deficiency Case Study on MHC 11 Deficiency Description MHC class II deficiency is considered to be an an inherited failure of gene regulation while MHC class I deficiency is considered to be a failure of antigen processing. Your focus will be on MHC class II deficiency for this case study. The class II molecules of the major histocompatibility complex (MHC) are involved in presenting antigens to CD4+ T cells i.e. the responses of CD4+ T cells are restricted by MHC class II molecules. The peptide antigens that they present are derived from extracellular pathogens and proteins are taken up intracellularly. MHC class II molecules have a more limited distribution than MHC class I molecules: they are expressed constitutively only on antigen-presenting cells (APCs). MHC class II molecules and CD4+ T cells play critical roles in the responses to pathogens and antigens—that are internalized by APCs. MHC class II deficiency is inherited as an autosomal recessive trait. Health problems show up early in infancy. MHC II deficiency should not be confused with severe combined immunodeficiency (SCID). Instructions Evaluating or writing a case study is good training for a clinical setting; you will need to decide what the pertinent information is and what all needs to be done to make a diagnosis. In this assignment, you will write your own case study. The first step to start this assignment is to make a rough draft of the disease associated with MHC 11 deficiency and what the mechanism of the immune response (i.e.what is lacking) is affected and how this is manifested clinically in a patient. Some hints have already been provided regarding the inheritance and age of manifestation of symptoms. Once you have done your research and written out the draft of this illness, then imagine a clinical scenario where a patient will present with this illness. Using that, start writing the case. If this disease is present in a specific ethnic group you need to include that in your case presentation. DO NOT CONFUSE AN "MHC 11 DEFICIENCY" WITH an "MHC 11 LINKED DISEASE".YOU WILL LOSE SIGNIFICANT POINTS IF YOU DO SO. * An MHC-linked disease refers to a genetic susceptibility associated with a specific haplotype to certain complex diseases. This does not indicate a deficiency. A guide is given below to facilitate your case study writing (all these must be addressed to get full points) : • Present the symptoms 1/2 2/17/24, 3:50 AM Case Study on MHC 11 Deficiency • Present a list of the "items" that may be important in making a decision: i.e. temperature, white blood cell count,cough etc • Make a preliminary list of an initial list of differential diagnoses. Prepare a short list of reasons to keep or delete each disease. • Get the list down to 2 possibilities • Give your final diagnosis, and the treatment. In what time period do you expect the disease to resolve? • What is the long term prognosis? Describe the pathogenesis of MHC Class 11 deficiency with the disease you describe. What is the role of MHC Class 11 molecules in antigen presentation to CD4 T cells? What is the role of the co- receptor molecule CD4 in antigen recognition by T cells? • If you describe the disease in an older individual you will need to provide a detailed explanation as to how that patient survived beyond infancy. ● This assignment should be at least 1000 words. Upload your assignment in .doc, or .docx format. Expectations Exceptional - Identifies and demonstrates a sophisticated understanding of the main pathogenesis and supports diagnosis with accurate analysis using well documented evidence. Written in a case study format. Average - Supports diagnosis with limited understanding of the pathogenesis of the illness and demonstrates weak analysis of the evidence presented. Format is not proper. Below Average - Presents a superficial understanding of the pathogenesis of the illness with little or no analysis or weak relevance to a proposed solution. No case study format used. 2/2

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2/17/24, 3:50 AM Case Study on MHC 11 Deficiency Case Study on MHC 11 Deficiency Description MHC class II deficiency is considered to be an an inherited failure of gene regulation while MHC class I deficiency is considered to be a failure of antigen processing. Your focus will be on MHC class II deficiency for this ca