Primary Immune Deficiencies Quiz
37 Questions
1 Views

Primary Immune Deficiencies Quiz

Created by
@FunTrombone

Podcast Beta

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the cause of secondary immune deficiencies?

  • Genetic mutations
  • Age-related decline
  • Infectious diseases only
  • An underlying cause (correct)

    • What characterizes transient hypogammaglobulinemia of infancy?

  • Permanent decrease in immunoglobulins
  • Immediate onset after birth
  • Increase in serum immunoglobulins
  • Normal immunoglobulin production over time (correct)

    • Which type of cancer is associated with impairment of antibody production?

  • Melanoma
  • Carcinoma
  • Sarcoma
  • Lymphoma (correct)

    • Which virus is known to impair immune system function?

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

    What is the role of albumin in blood serum?

    <p>Keeps blood from leaking out of vessels</p> Signup and view all the answers

    Which protein is found in the alpha-2 globulin fraction?

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

    What does polyclonal hypergammaglobulinemia result in?

    <p>Broad spike in the gamma region on serum protein electrophoresis</p> Signup and view all the answers

    What is a potential consequence of protein-energy malnutrition in terms of immune function?

    <p>Secondary immune deficiency</p> Signup and view all the answers

    What laboratory finding is associated with abnormal accumulation of lymphoid cells?

    <p>Spike in the beta or gamma region on serum protein electrophoresis</p> Signup and view all the answers

    Which of the following describes a characteristic of primary amyloidosis?

    <p>Presence of Bence Jones proteins</p> Signup and view all the answers

    Which of the following outcomes results from the deposition of insoluble proteins in tissues?

    <p>Progressive loss of organ function</p> Signup and view all the answers

    What is the effect of increased plasma viscosity in relation to secondary immune deficiencies?

    <p>Increased risk of blood clotting</p> Signup and view all the answers

    Which process is primarily disrupted due to amyloid proteins accumulating in organs?

    <p>Normal biological functions</p> Signup and view all the answers

    What is the primary defect in Bruton or X-linked agammaglobulinemia?

    <p>Mutations in the gene encoding for Bruton tyrosine kinase (BTK)</p> Signup and view all the answers

    In Hyper-IgM syndrome, which immunoglobulin is typically found at increased levels?

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

    Which infection is most commonly associated with patients suffering from Selective IgA deficiency?

    <p>Respiratory tract infections</p> Signup and view all the answers

    What type of immune deficiency is primarily manifested by recurrent infections with encapsulated bacteria?

    <p>Humoral immune deficiency</p> Signup and view all the answers

    What is a common complication seen in individuals with Hyper-IgM syndrome?

    <p>Development of autoantibodies</p> Signup and view all the answers

    Which of the following is a hallmark indicator of Selective IgA deficiency?

    <p>Normal serum IgG levels</p> Signup and view all the answers

    How does a defect in the CD40 ligand affect class switching in B cells?

    <p>It prevents switch from IgM to IgG, IgA, or IgE.</p> Signup and view all the answers

    What is the incidence of Bruton or X-linked agammaglobulinemia in females?

    <p>1 in 200,000</p> Signup and view all the answers

    What condition is characterized by a narrow peak on serum protein electrophoresis due to malignant transformation of a clone of B cells?

    <p>Multiple myeloma</p> Signup and view all the answers

    Which condition leads to beta-gamma bridging on serum protein electrophoresis?

    <p>Liver disease</p> Signup and view all the answers

    Which of the following is NOT a symptom of multiple myeloma?

    <p>Congestive heart failure</p> Signup and view all the answers

    What is the primary hallmark of Waldenström macroglobulinemia?

    <p>Synthesis of homogeneous IgM</p> Signup and view all the answers

    What laboratory finding is consistent with the diagnosis of multiple myeloma?

    <p>Monoclonal gammopathy</p> Signup and view all the answers

    Which acute-phase proteins can be produced during inflammation, affecting serum protein electrophoresis?

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

    What percentage of patients with multiple myeloma typically have Bence Jones protein in their urine?

    <p>50%</p> Signup and view all the answers

    What symptom is commonly associated with hyperviscosity of plasma due to Waldenström macroglobulinemia?

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

    Which of the following statements is true regarding severe combined immune deficiency (SCID)?

    <p>Patients with SCID often have an underdeveloped thymus.</p> Signup and view all the answers

    What enzymes are deficient in some forms of severe combined immune deficiency that leads to toxic nucleotide accumulation?

    <p>Adenosine deaminase and purine nucleotide phosphorylase.</p> Signup and view all the answers

    In which condition do patients experience a deficiency in MHC class II that primarily affects the development of T helper cells?

    <p>Bare lymphocyte syndrome.</p> Signup and view all the answers

    Which disease is associated with mutations in the Wiskott-Aldrich syndrome protein (WASP)?

    <p>Wiskott-Aldrich syndrome.</p> Signup and view all the answers

    What is the clinical presentation in patients suffering from Wiskott-Aldrich syndrome?

    <p>Eczema, thrombocytopenic purpura, and increased risk of infections.</p> Signup and view all the answers

    Which characteristic is true regarding patients with a C3 complement defect?

    <p>They are at a higher risk for immune complex diseases.</p> Signup and view all the answers

    What infection risk is associated with patients having deficiencies in early alternative complement proteins, such as factor D?

    <p>Risk of infections by Neisseria meningitidis.</p> Signup and view all the answers

    What is a common reason for the poor prognosis in patients susceptible to opportunistic infections?

    <p>Poor function of T and B cells.</p> Signup and view all the answers

    Study Notes

    Primary Immune Deficiencies

    • Bruton or X-linked agammaglobulinemia
      • Rare, affecting approximately 1 in 200,000 females.
      • Characterized by a deficiency in the gene encoding for Bruton tyrosine kinase (BTK), crucial for B cell maturation.
      • Results in significantly reduced or absent B cells (CD19/20) and a marked deficiency of all immunoglobulin classes.
      • Symptoms manifest after 6 months of age, including recurrent and life-threatening infections caused by encapsulated bacteria like Streptococcus pneumoniae and Haemophilus influenzae.
      • Common manifestations include pneumonia, sinusitis, bronchitis, otitis, furunculosis, meningitis, and septicemia.
    • Hyper-IgM syndrome (HIGM)
      • Classified into five types, each involving different genes, primarily CD40.
      • Characterized by a defect in CD40 ligand on T helper cells, preventing class switching from IgM to IgG, IgA, or IgE.
      • Increased serum IgM levels and significantly reduced or absent IgG and IgA.
      • Individuals are susceptible to respiratory tract infections, particularly pneumonia.
      • May develop autoantibodies against platelets, red blood cells, and neutrophils.
    • Selective IgA deficiency (SIgAD)
      • Patients exhibit low or absent serum and secretory IgA levels, but normal IgG levels.
      • Similar to common variable immunodeficiency (CVID).
      • Individuals are highly vulnerable to opportunistic infections and have a poor prognosis.
    • Severe combined immune deficiency (SCID)
      • A group of diseases affecting T and B cell function, suppressing both humoral and cell-mediated immune responses.
      • Examples include defects in adenosine deaminase (ADA) or purine nucleotide phosphorylase (PNP).
      • Absence of these enzymes leads to an accumulation of toxic nucleotide metabolites in all cells, particularly detrimental to T and B cells.
      • Other examples include bare lymphocyte syndrome with MHC class II deficiency, resulting in impaired T helper cell development, and Wiskott-Aldrich syndrome.
    • Complement deficiencies
      • Genetic deficiencies can occur in each complement protein.
      • Homozygous deficiencies in early components of the classical pathway lead to increased immune complex diseases.
      • Defects in early alternative pathway components, like factor D and properdin, increase susceptibility to Neisseria meningitidis infections.
      • C3 deficiency presents with the most severe clinical manifestations.

    Secondary Immune Deficiencies

    • Caused by underlying conditions.
    • Transient hypogammaglobulinemia of infancy: A decline in serum immunoglobulins during the first few months of life, which eventually resolves with normal immunoglobulin production.
    • Malignancy: Cancers suppress the immune system, leading to impaired antibody production in lymphomas, chronic lymphocytic leukemia, and multiple myeloma.
    • Viral diseases: Certain viruses, such as HIV, Epstein-Barr virus (EBV), and cytomegalovirus (CMV), impair immune function.
    • Nutritional deficiencies and defects: Malnutrition and protein-energy malnutrition syndromes (e.g., marasmus) can compromise immunity.

    Serum Electrophoresis and Hypergammaglobulinemia

    • Serum electrophoresis separates proteins based on their size and charge.
      • Albumin: The most abundant protein, essential for blood vessel integrity and transport of substances.
      • Alpha-1 globulin: Includes high-density lipoprotein (HDL), the "good" cholesterol.
      • Alpha-2 globulin: Contains haptoglobin, which binds to hemoglobin.
      • Beta globulin: Transports substances like iron and participates in immune defense.
      • Gamma globulin (immunoglobulins): Antibodies that fight infections.
    • Hypergammaglobulinemia: Elevated immunoglobulin levels in the blood.
      • Polyclonal Hypergammaglobulinemia: Elevated levels of multiple immunoglobulin classes, creating a broad peak in the gamma region during serum protein electrophoresis.
        • Caused by chronic antigenic stimulation from infectious organisms or inflammatory processes.
      • Monoclonal Hypergammaglobulinemia: A specific clone of B cells produces identical antibodies, resulting in a narrow peak in the gamma region.
        • Multiple myeloma: A malignant transformation of plasma cells, characterized by a high concentration of different immunoglobulin classes.
          • Symptoms include weakness, anorexia, weight loss, skeletal destruction, pain, anemia, renal insufficiency, and recurrent bacterial infections.
          • Laboratory findings include monoclonal gammopathy and plasma cell infiltrate in the bone marrow.
        • Waldenström macroglobulinemia: Uncontrolled proliferation of a B cell clone producing homogeneous IgM.
          • Increased plasma viscosity leads to congestive heart failure, headache, dizziness, vision loss, bleeding, and anemia.
          • Symptoms include weakness, fatigue, headache, and weight loss.
          • Laboratory findings include a beta or gamma region spike in serum protein electrophoresis, increased plasma viscosity, and lymphoid cell accumulation in bone marrow and tissues.
    • Primary amyloidosis: Nonstructural proteins (amyloid) accumulate in organs and tissues due to monoclonal plasma cell disorder.
      • Deposition of insoluble proteins in tissues like skin, liver, nerves, heart, and kidneys can lead to organ dysfunction.
      • Laboratory findings include abnormal serum immunoglobulins and presence of Bence Jones proteins.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    Lecture No. 8 Immune Defeciencies PDF

    Description

    Test your knowledge on primary immune deficiencies, including conditions like Bruton agammaglobulinemia and Hyper-IgM syndrome. This quiz covers key characteristics, symptoms, and genetic aspects of these rare immunological disorders. Perfect for students studying immunology or related fields.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser