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Questions and Answers
What is the cause of secondary immune deficiencies?
What is the cause of secondary immune deficiencies?
What characterizes transient hypogammaglobulinemia of infancy?
What characterizes transient hypogammaglobulinemia of infancy?
Which type of cancer is associated with impairment of antibody production?
Which type of cancer is associated with impairment of antibody production?
Which virus is known to impair immune system function?
Which virus is known to impair immune system function?
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What is the role of albumin in blood serum?
What is the role of albumin in blood serum?
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Which protein is found in the alpha-2 globulin fraction?
Which protein is found in the alpha-2 globulin fraction?
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What does polyclonal hypergammaglobulinemia result in?
What does polyclonal hypergammaglobulinemia result in?
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What is a potential consequence of protein-energy malnutrition in terms of immune function?
What is a potential consequence of protein-energy malnutrition in terms of immune function?
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What laboratory finding is associated with abnormal accumulation of lymphoid cells?
What laboratory finding is associated with abnormal accumulation of lymphoid cells?
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Which of the following describes a characteristic of primary amyloidosis?
Which of the following describes a characteristic of primary amyloidosis?
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Which of the following outcomes results from the deposition of insoluble proteins in tissues?
Which of the following outcomes results from the deposition of insoluble proteins in tissues?
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What is the effect of increased plasma viscosity in relation to secondary immune deficiencies?
What is the effect of increased plasma viscosity in relation to secondary immune deficiencies?
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Which process is primarily disrupted due to amyloid proteins accumulating in organs?
Which process is primarily disrupted due to amyloid proteins accumulating in organs?
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What is the primary defect in Bruton or X-linked agammaglobulinemia?
What is the primary defect in Bruton or X-linked agammaglobulinemia?
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In Hyper-IgM syndrome, which immunoglobulin is typically found at increased levels?
In Hyper-IgM syndrome, which immunoglobulin is typically found at increased levels?
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Which infection is most commonly associated with patients suffering from Selective IgA deficiency?
Which infection is most commonly associated with patients suffering from Selective IgA deficiency?
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What type of immune deficiency is primarily manifested by recurrent infections with encapsulated bacteria?
What type of immune deficiency is primarily manifested by recurrent infections with encapsulated bacteria?
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What is a common complication seen in individuals with Hyper-IgM syndrome?
What is a common complication seen in individuals with Hyper-IgM syndrome?
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Which of the following is a hallmark indicator of Selective IgA deficiency?
Which of the following is a hallmark indicator of Selective IgA deficiency?
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How does a defect in the CD40 ligand affect class switching in B cells?
How does a defect in the CD40 ligand affect class switching in B cells?
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What is the incidence of Bruton or X-linked agammaglobulinemia in females?
What is the incidence of Bruton or X-linked agammaglobulinemia in females?
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What condition is characterized by a narrow peak on serum protein electrophoresis due to malignant transformation of a clone of B cells?
What condition is characterized by a narrow peak on serum protein electrophoresis due to malignant transformation of a clone of B cells?
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Which condition leads to beta-gamma bridging on serum protein electrophoresis?
Which condition leads to beta-gamma bridging on serum protein electrophoresis?
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Which of the following is NOT a symptom of multiple myeloma?
Which of the following is NOT a symptom of multiple myeloma?
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What is the primary hallmark of Waldenström macroglobulinemia?
What is the primary hallmark of Waldenström macroglobulinemia?
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What laboratory finding is consistent with the diagnosis of multiple myeloma?
What laboratory finding is consistent with the diagnosis of multiple myeloma?
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Which acute-phase proteins can be produced during inflammation, affecting serum protein electrophoresis?
Which acute-phase proteins can be produced during inflammation, affecting serum protein electrophoresis?
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What percentage of patients with multiple myeloma typically have Bence Jones protein in their urine?
What percentage of patients with multiple myeloma typically have Bence Jones protein in their urine?
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What symptom is commonly associated with hyperviscosity of plasma due to Waldenström macroglobulinemia?
What symptom is commonly associated with hyperviscosity of plasma due to Waldenström macroglobulinemia?
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Which of the following statements is true regarding severe combined immune deficiency (SCID)?
Which of the following statements is true regarding severe combined immune deficiency (SCID)?
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What enzymes are deficient in some forms of severe combined immune deficiency that leads to toxic nucleotide accumulation?
What enzymes are deficient in some forms of severe combined immune deficiency that leads to toxic nucleotide accumulation?
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In which condition do patients experience a deficiency in MHC class II that primarily affects the development of T helper cells?
In which condition do patients experience a deficiency in MHC class II that primarily affects the development of T helper cells?
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Which disease is associated with mutations in the Wiskott-Aldrich syndrome protein (WASP)?
Which disease is associated with mutations in the Wiskott-Aldrich syndrome protein (WASP)?
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What is the clinical presentation in patients suffering from Wiskott-Aldrich syndrome?
What is the clinical presentation in patients suffering from Wiskott-Aldrich syndrome?
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Which characteristic is true regarding patients with a C3 complement defect?
Which characteristic is true regarding patients with a C3 complement defect?
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What infection risk is associated with patients having deficiencies in early alternative complement proteins, such as factor D?
What infection risk is associated with patients having deficiencies in early alternative complement proteins, such as factor D?
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What is a common reason for the poor prognosis in patients susceptible to opportunistic infections?
What is a common reason for the poor prognosis in patients susceptible to opportunistic infections?
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Study Notes
Primary Immune Deficiencies
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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.
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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.
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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.
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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.
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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
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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.
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Hypergammaglobulinemia: Elevated immunoglobulin levels in the blood.
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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.
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Monoclonal Hypergammaglobulinemia: A specific clone of B cells produces identical antibodies, resulting in a narrow peak in the gamma region.
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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.
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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.
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Multiple myeloma: A malignant transformation of plasma cells, characterized by a high concentration of different immunoglobulin classes.
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Polyclonal Hypergammaglobulinemia: Elevated levels of multiple immunoglobulin classes, creating a broad peak in the gamma region during serum protein electrophoresis.
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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.
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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.
