Immunodeficiencies_2 Flashcards
What is immunodeficiency?
Immunodeficiency is when the immune system errs by failing to protect the host from disease-causing agents or from malignant cells.
How can immunodeficiency disorders be classified?
Immunodeficiency disorders can be classified based on cause and components involved.
What are the two classifications based on cause?
- Primary Immunodeficiency: conditions resulting from a genetic or developmental defect in the immune system.
- Secondary Immunodeficiency: loss of immune function resulting from exposure to various agents.
What are the components involved in the classification of immunodeficiency disorders?
The components involved include B cells, T cells, Phagocytes, and Complement.
What is Bruton’s X-Linked Agammaglobulinemia?
A rare genetic disorder that affects the body’s ability to fight infection due to the absence of the BTK gene.
What is Common Variable Immunodeficiency (CVI)?
CVI is characterized by the failure of mature B cells to become plasma cells, with an unknown mechanism.
What is Transient Hypogammaglobulinemia?
Failure of B cells to produce antibodies due to delayed maturation of T cells in the thymus, often lasting up to 3 years.
What is X-Linked Hyper IgM Syndrome?
A condition with increased levels of IgM and low levels of other isotypes due to the absence of CD40 ligand on Thelper cells.
What is Hyper IgE syndrome?
A condition characterized by impaired IL-2 production and hyperactive Th2, leading to allergic reactions.
What is IgA deficiency?
The most common primary immunodeficiency, resulting from the failure of B cells to become IgA-producing plasma cells.
What is DiGeorge Syndrome?
A disorder caused by a deletion on chromosome 22q, leading to impaired development of the thymus and other structures.
What is Purine-nucleoside phosphorylase deficiency?
A condition resulting from mutations in the PNP gene, leading to toxic purine metabolites and a decrease in T cells.
What is Severe Combined Immunodeficiency (SCID)?
A group of disorders characterized by the absence of both B and T cell function, with several types including X-Linked SCID.
What is Wiskott-Aldrich Syndrome?
A condition characterized by defects in T and B cell function, decreased platelet survival, and eczema.
What is Ataxia-Telangiectasia (AT) Syndrome?
A neurodegenerative inherited disorder caused by the absence of the ATS gene, affecting T cell receptors and immunoglobulin isotypes.
