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Questions and Answers
What is the primary defect in X-linked Agammaglobulinemia?
What is the primary defect in X-linked Agammaglobulinemia?
Which of the following is NOT a characteristic of complement system deficiencies?
Which of the following is NOT a characteristic of complement system deficiencies?
What is a primary feature of autoinflammatory disorders?
What is a primary feature of autoinflammatory disorders?
Inherited defects in T-cell help primarily impact which aspect of the immune response?
Inherited defects in T-cell help primarily impact which aspect of the immune response?
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Phagocyte dysfunction can lead to increased risk of which type of infection?
Phagocyte dysfunction can lead to increased risk of which type of infection?
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What is primarily affected in X-linked agammaglobulinemia (XLA)?
What is primarily affected in X-linked agammaglobulinemia (XLA)?
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Which type of immunodeficiency is characterized by normal T-cell function but decreased antibody production due to B-cell defects?
Which type of immunodeficiency is characterized by normal T-cell function but decreased antibody production due to B-cell defects?
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What is a common consequence of phagocyte dysfunction?
What is a common consequence of phagocyte dysfunction?
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In individuals with selective IgA deficiency, which immunologic disorder is commonly associated?
In individuals with selective IgA deficiency, which immunologic disorder is commonly associated?
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What is a characteristic of inherited defects in T-cell help?
What is a characteristic of inherited defects in T-cell help?
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Why are males more commonly affected by X-linked agammaglobulinemia (XLA)?
Why are males more commonly affected by X-linked agammaglobulinemia (XLA)?
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What is the primary role of the complement system?
What is the primary role of the complement system?
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What is the primary consequence of a deficiency in C3 in the complement system?
What is the primary consequence of a deficiency in C3 in the complement system?
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Which pathway deficiencies are associated with increased susceptibility to bacterial infections?
Which pathway deficiencies are associated with increased susceptibility to bacterial infections?
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In G6PD deficiency, what is one clinical aspect that can be observed?
In G6PD deficiency, what is one clinical aspect that can be observed?
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Which deficiency can lead to severe problems with type III hypersensitivity diseases?
Which deficiency can lead to severe problems with type III hypersensitivity diseases?
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What is a well-known clinical example of a phagocytic dysfunction?
What is a well-known clinical example of a phagocytic dysfunction?
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What is a characteristic effect of complement deficiencies affecting the classical pathway?
What is a characteristic effect of complement deficiencies affecting the classical pathway?
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How do defects in the mannose-binding lectin pathway primarily affect the immune response?
How do defects in the mannose-binding lectin pathway primarily affect the immune response?
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What is one potential effect of CD59 deficiency?
What is one potential effect of CD59 deficiency?
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Which of the following statements about autoinflammatory disorders is true?
Which of the following statements about autoinflammatory disorders is true?
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What characterizes phagocyte dysfunction diseases like CGD?
What characterizes phagocyte dysfunction diseases like CGD?
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What is the primary cause of primary immunodeficiency disorders?
What is the primary cause of primary immunodeficiency disorders?
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At what age do most primary immunodeficiencies typically become apparent?
At what age do most primary immunodeficiencies typically become apparent?
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Which of the following is a treatment option for individuals with immunodeficiency disorders?
Which of the following is a treatment option for individuals with immunodeficiency disorders?
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What symptom is typically associated with both primary and secondary immunodeficiencies?
What symptom is typically associated with both primary and secondary immunodeficiencies?
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What genetic factor can contribute to the development of primary immunodeficiency disorders?
What genetic factor can contribute to the development of primary immunodeficiency disorders?
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What defines severe combined immunodeficiency disorders (SCID)?
What defines severe combined immunodeficiency disorders (SCID)?
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Which gene defects are commonly associated with combined lymphocyte lineage defects in SCID?
Which gene defects are commonly associated with combined lymphocyte lineage defects in SCID?
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What is a key symptom of adenosine deaminase deficiency (ADA) related to immune function?
What is a key symptom of adenosine deaminase deficiency (ADA) related to immune function?
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Which of the following describes a common consequence of defects in B cells within SCID?
Which of the following describes a common consequence of defects in B cells within SCID?
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How does cytokine receptor deficiency impact immune function?
How does cytokine receptor deficiency impact immune function?
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What is one potential outcome of normal B cell levels but impaired B cell function?
What is one potential outcome of normal B cell levels but impaired B cell function?
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Which pathway of immune function is affected by SCID due to defects in B and T cells?
Which pathway of immune function is affected by SCID due to defects in B and T cells?
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In the context of immunodeficiency, what does a deficiency in variable regions of immunoglobulins typically indicate?
In the context of immunodeficiency, what does a deficiency in variable regions of immunoglobulins typically indicate?
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What is the primary challenge in treating immunodeficiencies like SCID?
What is the primary challenge in treating immunodeficiencies like SCID?
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What is a critical feature of the immune response affected in individuals with SCID?
What is a critical feature of the immune response affected in individuals with SCID?
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What major function do phagocytes fail to perform in Chronic Granulomatous Disease (CGD)?
What major function do phagocytes fail to perform in Chronic Granulomatous Disease (CGD)?
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What is a common consequence of G6PD deficiency in terms of immune function?
What is a common consequence of G6PD deficiency in terms of immune function?
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Which clinical manifestation is associated with both Chronic Granulomatous Disease (CGD) and G6PD deficiency?
Which clinical manifestation is associated with both Chronic Granulomatous Disease (CGD) and G6PD deficiency?
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Which component's deficiency directly affects the production of reactive oxygen species in phagocytes?
Which component's deficiency directly affects the production of reactive oxygen species in phagocytes?
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What is a potential hematological consequence of G6PD deficiency?
What is a potential hematological consequence of G6PD deficiency?
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What is the primary consequence of TAP deficiency in immune function?
What is the primary consequence of TAP deficiency in immune function?
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Individuals with chronic granulomatous disease (CGD) primarily experience issues with which immune function?
Individuals with chronic granulomatous disease (CGD) primarily experience issues with which immune function?
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What characterizes the G6PD deficiency in relation to immune function?
What characterizes the G6PD deficiency in relation to immune function?
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What type of infections are patients with defects in phagocyte function, like CGD, particularly susceptible to?
What type of infections are patients with defects in phagocyte function, like CGD, particularly susceptible to?
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Which immune cells are primarily affected by a TAP deficiency?
Which immune cells are primarily affected by a TAP deficiency?
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Patients with delayed type hypersensitivity (DTH) defects would likely have issues with which type of infections?
Patients with delayed type hypersensitivity (DTH) defects would likely have issues with which type of infections?
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What is a clinical feature associated with both G6PD deficiency and CGD?
What is a clinical feature associated with both G6PD deficiency and CGD?
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Which aspect of immune response is primarily impaired in patients with defects in MHC class 1?
Which aspect of immune response is primarily impaired in patients with defects in MHC class 1?
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In the context of immune deficiencies, what is a common clinical effect of phagocyte dysfunction?
In the context of immune deficiencies, what is a common clinical effect of phagocyte dysfunction?
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Which cellular component is primarily reduced as a consequence of TAP deficiency?
Which cellular component is primarily reduced as a consequence of TAP deficiency?
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Study Notes
Immunology BMS 545 - Study Notes
- Course information:
- Course Title: Immunology
- Course Number: BMS 545
- Date: November 13, 2024
- No time limit, no due date
Announcements
- Office hours:
- Tuesday 4-5 pm (virtual)
- Thursday 4-5 pm (in-person)
- DITKI due Friday, November 15th, by 12:59 pm
- Topic: Pathophysiology of HIV
- Friday's class is an asynchronous recording for Research Days.
- Bonus point for attending Research Days (1-4 pm)
- Maximum one bonus point per person for homework.
Course Outline - The Rest of the Semester (Module 4)
- November 13th - Primary Immunodeficiency
- November 15th - Secondary Immunodeficiency (asynchronous), Research Days (1-4 pm)
- November 18th - Transplantation & Immune Pharmacotherapy
- November 20th - Transplantation & Immune Pharmacotherapy & Cancer
- November 22nd - Cancer & Tumor Immunity
- November 25th - Hypersensitivity (asynchronous. Enjoy Thanksgiving break)
- November 27th-29th - Thanksgiving break
- December 2nd - Autoimmune Disorders
- December 4th - "What's Wrong with Me?" Case Study
- December 6th - Final Immunology debrief: The Well Patient
Learning Objectives
- Define and compare primary and secondary immunodeficiencies.
- Identify and describe 8 different primary immunodeficiency groupings.
- How would a "novel" immunodeficiency disorder be grouped? (based on immune system aspect affected)
- Describe affected cell lineages and how they are impacted in each PIDD (primary immune deficiency disorder) group and specifics.
- Provide examples of cell lineages in PIDD, along with their causes and consequences.
- Identify PIDD by symptoms, clinical presentation, or genetics.
- Specific disorders covered: SCID, CID, ADA, TAP, DiGeorge, Wiskott-Aldrich, Ataxia telangiectasia, Selective IgA, Immune Deficiency with hyper IgM, XLA, CGD, G6PD, C3 deficiency, CI/C2/C4 deficiency, and CD59 deficiency.
Failure of the Immune System = Reduced Ability to Resist Infection
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Primary immunodeficiencies: Caused by defects in immune system components. Usually genetic, resulting from errors in development.
- Typically become apparent around 6 months of age, when maternal antibodies disappear.
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Secondary immunodeficiencies: Caused by environmental factors like infection, treatments, cancer, or malnutrition.
- Can occur at any time in life, depending on exposure.
- Characterized by recurrent or chronic infections that are not cleared by standard antibiotic therapy, often with unusual infectious agents.
Inherited Immunodeficiency Diseases
- Rare primary immunodeficiencies reveal how the immune system works, with over 100 identified in humans having specific defective genes
- These disorders have been identified to be less rare than originally thought, varying in rarity depending on the disease.
- Inherited immunodeficiencies are caused by dominant, recessive, or X-linked gene defects
Primary Immunodeficiency Syndromes
- Categorized into 8 functional groups described by specific immunodeficiencies affecting different cell lineages or immunity. Data provided in a table format for specific counts of each group and specific affected genes.
Defects in Lymphoid Lineage
- Resulting in defective function of both B and T cells.
- SCID (Severe Combined Immunodeficiency): A group of diseases caused by defects in the individual genes which have similar consequences
- Defects may affect enzymes (RAG-I, RAG-2) for rearranging DNA in Ig's and TCR's.
- Other defects involve cytokine receptors and cell-to-cell interactions for lymphocyte activation.
Defects in T-Cells
- Affect either CD4+ or CD8+ T cells (or both).
- Frequent/recurrent fungal infections may indicate T-cell defects.
- Examples, like TAP deficiency (bare lymphocyte syndrome), may disrupt the antigen presentation process.
- Other examples, like DiGeorge syndrome, relate to thymic development, potentially impacting T-cell development. -Symptoms + testing allow early detection & treatment at birth. A note of caution to consider that DiGeorge is actually group 2 now, but is currently kept in this section to maintain simplicity in learning concepts.
Combined Immunodeficiencies
- Defects in T-cell function cause severe combined immunodeficiencies.
Diseases of Immune Dysregulation
- Describes disorders of immune system processes, such as inflammatory and immune responses
Congenital Defects of Phagocyte
- Defects in phagocytes make individuals more vulnerable to bacterial infection, with a focus on phagocyte number and function.
Defects in Phagocytes
- Phagocyte defects hinder the body's ability to kill invading microbes. This is significant.
- An example of issues are Chronic granulomatous disease (CGD). Additional examples are listed.
G6PD Deficiency - "Favism"
- Suggests an evolutionary connection between G6PD deficiency and malaria resistance.
- Researchers found that children with a specific African variant of the G6PD had resistance to P. falciparum malaria
- Research comparing those who died in childhood or adulthood
Defects in Intrinsic & Innate Immunity
- Describes disorders relating to intrinsic and innate immunity with a focus on infections, parasites, and fungal diseases. Symptoms relating to the diseases are described.
Autoinflammatory Disorders
- A variety of disorders relating specifically to inflammation and immune responses are listed. Symptoms and causes are emphasized.
Complement Deficiencies
- Defects in complement proteins, causing issues with antibody-mediated immunity and an increased risk of immune complex diseases.
Defects In Complement
- Issues with the complement system, particularly C3 deficiency, increase vulnerability to infections and other immunologic concerns. Details are given about each affected protein in complement.
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Description
Explore the key topics covered in the BMS 545 Immunology course, including primary and secondary immunodeficiencies, transplantation, cancer immunity, and hypersensitivity. This is a great resource for preparing for upcoming classes and assignments, including important dates and office hours for support.
