Primary Immunodeficiency Diseases
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Questions and Answers

What is the outcome of infants with Severe Combined Immunodeficiency Disorders without bone marrow or hematopoietic stem cell transplantation?

  • They usually survive longer than children with other immunodeficiency disorders
  • They have a high chance of successful treatment with gene therapy
  • They are asymptomatic until adulthood
  • Survival beyond the first year of life is rare (correct)

    • What is a characteristic of Combined Immunodeficiency Disorders?

  • Autosomal dominant pattern of inheritance
  • Impaired T-cell function and impaired antibody-forming (correct)
  • Normal T-cell function and impaired antibody-forming
  • Impaired T-cell function and normal antibody-forming

    • What is the most common outcome of children with Severe Combined Immunodeficiency Disorders who have experienced severe opportunistic infections?

  • They usually survive longer than children with other immunodeficiency disorders
  • The chances of successful treatment are low (correct)
  • They are asymptomatic until adulthood
  • They have a high chance of successful treatment with bone marrow transplantation

    • What is the inheritance pattern of Combined Immunodeficiency Disorders?

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

    What are the symptoms of Combined Immunodeficiency Disorders?

    <p>Recurrent pulmonary infections, failure to thrive, oral and cutaneous candidiasis, chronic diarrhea, and recurrent skin infections</p> Signup and view all the answers

    What is the treatment for Combined Immunodeficiency Disorders?

    <p>Supportive measures to prevent bacterial infections</p> Signup and view all the answers

    What is the net result of a mutation in genes influencing lymphocyte development or response?

    <p>Disruption in the normal communication system between B and T lymphocytes</p> Signup and view all the answers

    What is a characteristic of Severe Combined Immunodeficiency Disorders?

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

    What is a symptom of Severe Combined Immunodeficiency Disorders in infants?

    <p>Chronic diarrhea</p> Signup and view all the answers

    What is the mode of inheritance of Severe Combined Immunodeficiency Disorders?

    <p>X-linked and autosomal recessive</p> Signup and view all the answers

    What is a characteristic of the disease course of Severe Combined Immunodeficiency Disorders in infants?

    <p>It resembles AIDS</p> Signup and view all the answers

    What is a potential consequence of Severe Combined Immunodeficiency Disorders?

    <p>Fatal outcome</p> Signup and view all the answers

    What is the primary function of T-cells in the immune system?

    <p>Coordinating the overall immune response</p> Signup and view all the answers

    What is the typical outcome for patients with Primary Cell-Mediated Immunodeficiencies if left untreated?

    <p>Low survival beyond infancy or childhood</p> Signup and view all the answers

    What is the characteristic feature of X-Linked Immunodeficiency With Hyper-IgM?

    <p>Low IgG and IgA levels with normal or high IgM concentrations</p> Signup and view all the answers

    What is the genetic defect associated with DiGeorge Syndrome?

    <p>DNA microdeletion on chromosome 22</p> Signup and view all the answers

    What is the typical age of onset for symptoms in X-Linked Immunodeficiency With Hyper-IgM?

    <p>During the first and second years of life</p> Signup and view all the answers

    What is the goal of gene replacement therapy for Cell-Mediated Immunodeficiencies?

    <p>To restore T-cell function</p> Signup and view all the answers

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