Primary Immunodeficiencies: Diagnosis and Management
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Questions and Answers

What is the primary consequence of an immunodeficiency?

  • Cancer
  • Infection (correct)
  • Chronic inflammation
  • Autoimmune disease

    • What is the estimated prevalence of IgA deficiency in the U.S.?

  • 1 in 100 people
  • 1 in 300 - 500 people (correct)
  • 1 in 1000 people
  • 1 in 5000 people

    • Which of the following is a characteristic of primary immunodeficiencies?

  • Can only present in childhood
  • Always genetic or inherited (correct)
  • Usually caused by medication
  • Acquired through infection or malnutrition

    • What is the primary distinction between primary and secondary immunodeficiencies?

    <p>Primary immunodeficiencies are the primary problem, whereas secondary immunodeficiencies are caused by an underlying condition</p> Signup and view all the answers

    At what age can primary immunodeficiencies present?

    <p>At any age</p> Signup and view all the answers

    What is the estimated prevalence of non-IgA deficiency primary immunodeficiencies in live births?

    <p>1 in 1200 live births</p> Signup and view all the answers

    What is the hallmark of Primary Immunodeficiency Disease (PID)?

    <p>Increased susceptibility to infection</p> Signup and view all the answers

    What is the characteristic of the blood vessels in Ataxia-Telangiectasia?

    <p>Small and dilated</p> Signup and view all the answers

    What is the typical presentation of infections in patients with Primary Immunodeficiency Disease (PID)?

    <p>Chronic or recurrent 'routine' infections</p> Signup and view all the answers

    What is a common feature of DiGeorge Syndrome?

    <p>Abnormal facies</p> Signup and view all the answers

    What is a possible indication of a mechanical issue in a patient with recurrent infections?

    <p>Recurrent infections in the same location</p> Signup and view all the answers

    What is a characteristic of Wiskott-Aldrich Syndrome?

    <p>Variable B- and T- cell dysfunction</p> Signup and view all the answers

    What is the characteristic of Severe Combined Immunodeficiency (SCID)?

    <p>Virtually no T cells or immune function</p> Signup and view all the answers

    What is the treatment for Severe Combined Immunodeficiency (SCID)?

    <p>Bone marrow transplant</p> Signup and view all the answers

    What type of disorders are characterized by the presence or absence of T-cells?

    <p>T-cell and Combined Defects</p> Signup and view all the answers

    What is the name of the syndrome that is caused by a defect in the C3 protein?

    <p>S.pneumonia H</p> Signup and view all the answers

    What is the age of presentation for Severe Combined Immunodeficiency (SCID)?

    <p>Within the first year of life</p> Signup and view all the answers

    What is the most common phagocytic disorder?

    <p>Chronic granulomatous disease</p> Signup and view all the answers

    Which laboratory test is used to diagnose complement deficiency?

    <p>CH50 Assay</p> Signup and view all the answers

    What is the most common type of cancer in patients with PID?

    <p>Non-Hodgkin lymphoma</p> Signup and view all the answers

    What is a common symptom of chronic granulomatous disease?

    <p>Painful sores around the mouth</p> Signup and view all the answers

    What is the estimated cancer risk for PID patients?

    <p>4-25%</p> Signup and view all the answers

    Which of the following is used to evaluate suspected T-cell disorders?

    <p>Lymphocyte subset analysis</p> Signup and view all the answers

    What is the origin of Non-Hodgkin lymphoma in patients with PID?

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

    Which of the following PIDs has the highest incidence of cancers, including Hodgkin and Non-Hodgkin lymphoma?

    <p>Ataxia-telangiectasia</p> Signup and view all the answers

    What is a symptom that patients with PID should be educated to report?

    <p>Recurrent fever</p> Signup and view all the answers

    What is a general recommendation for cancer prevention in patients with PID?

    <p>Avoid STIs</p> Signup and view all the answers

    In which tissues are Non-Hodgkin lymphoma in patients with PID often found?

    <p>Gastrointestinal tract and central nervous system</p> Signup and view all the answers

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