Immunodeficiency Disorders
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Questions and Answers

Which of the following conditions is characterized by defects in both humoral and cell-mediated immune responses?

  • Selective IgA deficiency
  • DiGeorge Syndrome
  • Common Variable Immunodeficiency
  • X-linked SCID (correct)

    • What is the primary defect observed in Severe Combined Immunodeficiency (SCID)?

  • Excessive T cell activity
  • Overproduction of antibodies
  • Deficiency of macrophages
  • Maturation and activation of lymphocytes (correct)

    • Which genetic condition is associated with a deficiency in immunoglobulin production due to a block in B cell development?

  • Severe Combined Immunodeficiency
  • Hyper IgM Syndrome
  • DiGeorge Syndrome
  • X-linked (Bruton’s) Agammaglobulinemia (correct)

    • Which of the following is NOT a type of Severe Combined Immunodeficiency (SCID)?

    <p>Common Variable Immunodeficiency</p> Signup and view all the answers

    Which syndrome is characterized by a specific defect in T cell development?

    <p>DiGeorge Syndrome</p> Signup and view all the answers

    What type of antibody deficiency is primarily seen in Selective IgA deficiency?

    <p>IgA</p> Signup and view all the answers

    Which immunodeficiency disorder is indicated by a high level of IgM but low levels of IgG and IgA?

    <p>Hyper IgM Syndrome</p> Signup and view all the answers

    What is the common defect associated with DiGeorge Syndrome?

    <p>Deficiency in T cell production</p> Signup and view all the answers

    What is the most common fungal infection in patients with AIDS?

    <p>Candidiasis</p> Signup and view all the answers

    At what CD4+ T-cell count does the progression to AIDS occur?

    <p>200 cells/mcL</p> Signup and view all the answers

    Which symptom is commonly associated with the acute phase of HIV infection?

    <p>Flu-like symptoms</p> Signup and view all the answers

    Which opportunistic infection mainly involves Mycobacterium avium-intracellulare?

    <p>Disseminated bacterial infection</p> Signup and view all the answers

    What does the presence of oral candidiasis in asymptomatic HIV-infected individuals typically indicate?

    <p>Transition to AIDS</p> Signup and view all the answers

    What is a common symptom of infants affected by SCID?

    <p>Prominent thrush</p> Signup and view all the answers

    Which immune response is altered in patients with SCID?

    <p>Decreased cell-mediated response</p> Signup and view all the answers

    What mechanism is suggested to lead to SCID due to ADA deficiency?

    <p>Accumulation of deoxyadenosine</p> Signup and view all the answers

    What is the consequence of untreated SCID within the first year of life?

    <p>Death occurs</p> Signup and view all the answers

    Which of the following represents a cause of rash shortly after birth in some infants with SCID?

    <p>Maternal T cell transfer</p> Signup and view all the answers

    In the context of SCID, what does ADA stand for?

    <p>Adenosine deaminase</p> Signup and view all the answers

    What is generally considered one of the more common forms of primary immunodeficiency?

    <p>X-Linked Agammaglobulinemia</p> Signup and view all the answers

    What is the recommended treatment for SCID?

    <p>Hematopoietic stem cell transplantation</p> Signup and view all the answers

    What type of immune infection is SCID associated with?

    <p>A wide range of pathogens</p> Signup and view all the answers

    What is a typical sign of failure to thrive in infants with SCID?

    <p>Failure to meet growth parameters</p> Signup and view all the answers

    Which of the following best describes a characteristic of chronic HIV infection?

    <p>Asymptomatic phases</p> Signup and view all the answers

    What is a common minor opportunistic infection associated with chronic HIV infection?

    <p>Candidiasis</p> Signup and view all the answers

    Which condition is NOT a characteristic of chronic (late) HIV infection?

    <p>Significant weight loss</p> Signup and view all the answers

    What constitutes the largest group affected by profound immune deficiency due to HIV?

    <p>IV drug users</p> Signup and view all the answers

    What is primarily affected in patients with profound immune deficiency caused by HIV?

    <p>Cell-mediated immunity</p> Signup and view all the answers

    What role does seroconversion play in HIV infection?

    <p>It signifies the development of host immune response to the virus.</p> Signup and view all the answers

    Which statement correctly describes opportunistic infections experienced during chronic HIV infection?

    <p>They can be present but are often minor.</p> Signup and view all the answers

    Which cells are chiefly responsible for the loss of cell-mediated immunity in HIV infections?

    <p>CD4+ T (helper) cells</p> Signup and view all the answers

    What additional impact does HIV infection have on the immune system apart from T-cell depletion?

    <p>Impairment of B-cell function</p> Signup and view all the answers

    Which of the following conditions is specifically noted as a minor opportunistic infection in chronic HIV infection?

    <p>Herpes zoster</p> Signup and view all the answers

    What best describes the clinical presentation of a patient in the early stages of chronic HIV infection?

    <p>Patients may be asymptomatic.</p> Signup and view all the answers

    What is the most common mode of HIV transmission from an infected mother to her newborn?

    <p>During intrapartum (birth)</p> Signup and view all the answers

    Which of the following statements is true regarding the immune response in chronic HIV infection?

    <p>The immune response may become dysfunctional over time.</p> Signup and view all the answers

    Which group is most likely to experience immune deficiency due to an HIV infection from contaminated blood products?

    <p>Random recipients of blood transfusions</p> Signup and view all the answers

    How does the presence of minor opportunistic infections affect the quality of life in individuals with chronic HIV?

    <p>They can cause discomfort but are typically manageable.</p> Signup and view all the answers

    Which of the following factors does NOT contribute to the immune deficiency in HIV-infected individuals?

    <p>Increased CD8+ T cell activity</p> Signup and view all the answers

    What effect does HIV have on surviving CD4+ T (helper) cells?

    <p>It impairs their function</p> Signup and view all the answers

    What route of transmission is a major cause of pediatric AIDS?

    <p>Infected mother to newborn during intrapartum</p> Signup and view all the answers

    Which of the following best describes the impact of HIV on immune responses?

    <p>It leads to loss of both cell-mediated and humoral response</p> Signup and view all the answers

    What is the primary cause of the developmental block in SCID due to ADA deficiency?

    <p>Defective interleukin receptor signaling</p> Signup and view all the answers

    Which specific type of chain is mutated in the block from ADA deficiency in SCID?

    <p>Common γ-chain</p> Signup and view all the answers

    What is the most significant consequence of the developmental block in SCID?

    <p>Arrest in pro-T lymphocyte stage</p> Signup and view all the answers

    What role does the common γ-chain play in lymphocyte development?

    <p>Signals to interleukin receptors for T cell precursors</p> Signup and view all the answers

    Which stage of lymphocyte development is most affected by the defective interleukin receptor signaling in SCID?

    <p>Pro-T lymphocyte stage</p> Signup and view all the answers

    In SCID due to ADA deficiency, which cells are most profoundly impacted?

    <p>T cell precursors</p> Signup and view all the answers

    What is the role of interleukins that the common γ-chain interacts with during lymphocyte development?

    <p>They are essential for survival and proliferation of lymphoid progenitors</p> Signup and view all the answers

    How does the inability to develop T cells affect SCID patients?

    <p>It causes severe immune deficiency</p> Signup and view all the answers

    What is indicated by the presence of 'AIDS indicator diseases' in a patient?

    <p>The patient has developed AIDS.</p> Signup and view all the answers

    Which of the following is classified as an opportunistic infection related to AIDS?

    <p>Pneumonia caused by Pneumocystis jirovecii</p> Signup and view all the answers

    What percentage of untreated HIV-infected individuals may develop opportunistic infections?

    <p>15-30%</p> Signup and view all the answers

    Which of the following symptoms is NOT typically associated with AIDS indicator diseases?

    <p>Weight gain</p> Signup and view all the answers

    Which clinical manifestation is representative of the late phase of HIV infection?

    <p>Opportunistic infections</p> Signup and view all the answers

    What is a typical characteristic of chronic (late) HIV infection?

    <p>Asymptomatic phase with minor opportunistic infections</p> Signup and view all the answers

    Which organisms are most commonly associated with the immunodeficiency disorders mentioned?

    <p>Haemophilus, Streptococcus, and Staphylococcus</p> Signup and view all the answers

    Which opportunistic infection is commonly associated with chronic HIV infection?

    <p>Oral or vaginal candidiasis</p> Signup and view all the answers

    What happens to opsonized organisms in the presence of a T-cell deficiency?

    <p>They accumulate in the body and cause infections.</p> Signup and view all the answers

    What is typically observed during the asymptomatic phase of chronic HIV infection?

    <p>Minor opportunistic infections may occur</p> Signup and view all the answers

    What is the primary immune response affected when B cells are absent?

    <p>T cell-mediated immunity</p> Signup and view all the answers

    Which of the following statements is true regarding chronic HIV infection?

    <p>Opportunistic infections can occur without severe symptoms</p> Signup and view all the answers

    In chronic HIV infection, which of the following is a potential indicator of underlying immune deficiency?

    <p>Development of minor opportunistic infections</p> Signup and view all the answers

    How is the treatment for severe T-cell deficiencies typically managed?

    <p>Thymus grafts are suggested.</p> Signup and view all the answers

    Which type of infections are typically managed well by a functioning T-cell response?

    <p>Fungal and protozoal infections</p> Signup and view all the answers

    What role does seroconversion serve in the context of HIV infection?

    <p>Confirms the presence of antibodies against HIV</p> Signup and view all the answers

    What structural feature is often absent in patients with severe T-cell deficiency?

    <p>Hassall’s corpuscles</p> Signup and view all the answers

    Which statement about the immune response in chronic HIV infection is accurate?

    <p>The immune response is gradually weakened over time</p> Signup and view all the answers

    Which factor is NOT typically associated with chronic (late) HIV infection?

    <p>Long-term viral control</p> Signup and view all the answers

    What is a consequence of the inability to opsonize pathogens due to absent B cells?

    <p>Inability to handle extracellular bacteria</p> Signup and view all the answers

    What is a role of B cells in the immune system?

    <p>Producing antibodies</p> Signup and view all the answers

    What is a common feature of opportunistic infections during chronic HIV infection?

    <p>They may occur with no apparent symptoms</p> Signup and view all the answers

    What implication does the presence of minor opportunistic infections have for individuals with chronic HIV infection?

    <p>It signals significant immune compromise</p> Signup and view all the answers

    What type of immune cells are primarily implicated in the clearance of opsonized organisms?

    <p>Macrophages</p> Signup and view all the answers

    Which type of infections are typically less affected by a T-cell deficiency?

    <p>Intracellular viral infections</p> Signup and view all the answers

    What is a common clinical manifestation of DiGeorge Syndrome?

    <p>Thymic aplasia</p> Signup and view all the answers

    What distinct feature differentiates Common Variable Immunodeficiency (CVID) from X-linked agammaglobulinemia?

    <p>Hypogammaglobulinemia affecting all antibodies</p> Signup and view all the answers

    Which immune response is primarily compromised in patients with DiGeorge Syndrome?

    <p>Cell-mediated immunity from T lymphocytes</p> Signup and view all the answers

    Which complication is associated with hypoparathyroidism in DiGeorge Syndrome?

    <p>Hypocalcemia</p> Signup and view all the answers

    In the context of CVID, which mechanism is primarily responsible for recurrent infections?

    <p>Deficiency in T-cell mediated immunity</p> Signup and view all the answers

    What is a typical feature of the dysmorphic faces seen in DiGeorge Syndrome?

    <p>Bifid uvula</p> Signup and view all the answers

    What typically characterizes the antibody levels in patients with CVID?

    <p>Hypogammaglobulinemia generally affecting all antibodies</p> Signup and view all the answers

    Which of the following correctly indicates the primary cause of clinical manifestations in CVID?

    <p>Deficiency in antibody production</p> Signup and view all the answers

    Which following option best describes the structure derived from the 3rd and 4th pharyngeal pouches?

    <p>Thymus gland</p> Signup and view all the answers

    Which aspect of T-cell deficiency is notably affected in patients with a lymphoid organ involvement?

    <p>Depletion of T cell zones</p> Signup and view all the answers

    Study Notes

    Adaptive Immunity Defects

    • Defects in adaptive immunity are often categorized based on primary components involved: B cells, T cells, or both.
    • These defects primarily affect the maturation and activation of lymphocytes.

    Immune Deficiency Disorders

    • Common types of immune deficiency disorders due to defects in adaptive immunity include:
      • Severe Combined Immunodeficiency (SCID): X-linked and autosomal recessive forms.
      • X-linked (Bruton’s) Agammaglobulinemia: A significant form of B-cell deficiency.
      • DiGeorge Syndrome: Characterized by a range of immune deficiencies.
      • Hyper IgM Syndrome: Involves a defect in class switching.
      • Common Variable Immunodeficiency: Results in reduced levels of antibodies.
      • Selective IgA deficiency: Most common form of primary immunodeficiency.

    Severe Combined Immunodeficiency (SCID)

    • SCID is a group of genetically distinct syndromes leading to failures in both humoral (B-cell) and cell-mediated (T-cell) immune responses.
    • Affected infants present with symptoms like oral thrush, extensive diaper rash, and failure to thrive, along with extreme susceptibility to severe infections.
    • Treatment involves hematopoietic stem cell transplantation to prevent mortality within the first year of life.

    X-linked (Bruton’s) Agammaglobulinemia

    • B-cell deficiency resulting in a significant risk of infections due to a lack of antibodies.
    • It is one of the more prevalent primary immunodeficiencies.

    Mechanisms of T-cell Depletion in HIV Infection

    • Major route of HIV transmission includes infected mothers to newborns, particularly during birth or soon after.
    • Chronic (late) HIV infection can be asymptomatic or feature minor opportunistic infections like candidiasis or herpes.

    Phases of HIV Infection

    • Acute HIV Phase: Characterized by flu-like symptoms occurring days to weeks after HIV exposure.
    • Chronic HIV Phase: Also known as latent or asymptomatic, can last several years with persistent viral replication and generalized symptoms.
    • AIDS Phase: When CD4+ T-cell count drops below 200 cells/mcL, leading to severe infections and vulnerabilities due to a breakdown in host defenses.

    Clinical Manifestations of AIDS

    • Candidiasis: The most common fungal infection in AIDS patients, typically manifesting in oral cavity, vagina, and esophagus.
    • Disseminated bacterial infections primarily involve atypical Mycobacterium species.
    • Cryptococcosis: A serious opportunistic fungal disease affecting the brain, occurring in about 10% of AIDS patients.
    • Persistent diarrhea is common in advanced AIDS, often caused by protozoan infections.

    Defects in Adaptive Immunity

    • Most common immunodeficiency disorder, accounting for 50-60% of cases.
    • X-linked defects primarily affect males, leading to severe combined immunodeficiency (SCID).

    Site of Block in SCID

    • Block caused by adenosine deaminase (ADA) deficiency inhibits development of myeloid lymphoid progenitor cells at the pro-T lymphocyte stage.
    • Cytokine common γ-chain mutation disrupts normal T cell maturation.
    • Normal function of γ-chain includes sending survival and proliferation signals for lymphoid progenitors, especially T cell precursors.
    • Defective interleukin receptor signaling results in major defects in lymphocyte development, particularly T cell development.
    • Frequently results in increased susceptibility to infections from Haemophilus, Streptococcus, and Staphylococcus, which are typically managed by antibodies.

    DiGeorge Syndrome

    • Caused by failure of development of the 3rd and 4th pharyngeal pouches, leading to thymic hypoplasia or aplasia.
    • Associated congenital defects include hypocalcemia, heart defects, and abnormal facial features.
    • Individuals experience variable loss of T-cell mediated immunity, predisposing them to fungal and viral infections due to low T lymphocyte counts.

    Common Variable Immunodeficiency (CVID)

    • A heterogeneous group of disorders characterized by hypogammaglobulinemia affecting all antibody types, particularly causing deficits in IgG.
    • Diagnosis involves excluding other causes of decreased antibody production.
    • Clinical manifestations predominantly related to antibody deficiency.

    Differences Between CVID and X-linked Agammaglobulinemia

    • CVID leads to low antibody levels but may still retain some T-cells, unlike X-linked agammaglobulinemia, which results in complete absence of T-cells and B-cells.

    Chronic (Late) HIV Infection

    • Initial phase may be asymptomatic, with possible minor opportunistic infections like oral candidiasis and herpes zoster.
    • Progression to AIDS marked by the emergence of serious opportunistic infections and secondary neoplasms.
    • Common symptoms include fever, weight loss, and generalized lymphadenopathy.

    Opportunistic Infections in AIDS

    • A major cause of mortality in untreated AIDS patients, with pneumonia caused by Pneumocystis jirovecii being highly prevalent.
    • Occurs in approximately 15-30% of untreated HIV-infected individuals.

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    Related Documents

    Pathology Mod 4: Immunodeficiency Disorders PDF
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    Description

    Explore the intricate world of adaptive immunity defects and the components of the complement system. This quiz delves into various immunodeficiency disorders, highlighting the roles of key players such as B cells and their regulators. Test your knowledge on the pathology and classifications within this vital area of immunology.

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