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25 Cards in this Set

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What are some of the causes of immunodeficiencies
Infectious agents, genetic defect, malnutrition, neoplasia, iatrogenic, toxins
How can immunodeficiency etiologies be classified
Primary (genetic) and secondary (all the others)
What are the genetics of primary immunodeficiencies
Many caused by recessive gene defects, and can be mapped to the X chromosome
How is B cell function evaluated
Measuring concentration in blood, Ig levels, and antibody response to pokeweed mitogen
How is T cell function evaluated
Concentration in blood, Skin test DTH, Proliferation in response to antigens
How is phagocyte function evaluated
Nitro blue tetrazolium uptake, blood concentration
What are the characteristics of Severe combined immunodeficiency
B cells and T cells are affected; rare; history of recurrent infections; increased susceptibility to a broad range of pathogens
Give three examples of Severe combined immunodeficiency (SCID)
Adenosine Deaminase deficiency, X-linked SCID, Bare lymphocyte syndrome
Describe adenosine deaminase deficiency
50% of SCID patients, Autosomal recessive; Toxic dATP accumlates-lymphocytes are especially sensitive
Describe X-linked SCID
Recessive mutation in the common gamma chain, on the X chromosome; B+ T-NK-; impaired humoral immunity because of no T cell help
Describe bare lymphocyte syndrome
Autosomal recessive; Inability to express MHC class II; reduced numbers of CD4 T cells, so no DTH responses or T-dependent responses
What are the characteristics of B cell immunodeficiencies
Specific abnormality of B cell development; susceptible to encapsulated bacteria and enteric infections (lack of IgA)
What are three examples of B cell immunodeficiencies
X-linked Agammaglobulinemia; X-linked Hyper-IgM Syndrome; Common variable immunodeficiency
Describe X-linked Agammaglobulinemia
Mutation in a tyrosine kinase required for B-cell development in bone marrow; B-T+NK+; no germinal centers or plasma cells; non-random inactivation of X chromosome in B cells of female carriers
Describe X-linked Hyper-IgM Syndrome
Defective Ig class switching; Susceptiblility to bacteria and enteric infections; Mutation in CD40L, so defective T Cell help; random pattern of X chromosome inactivation
Describe Common Variable Immunodeficiency
Deficit in plasma cell differentiation, Ig deficiency
What are the characteristics of T cell immunodeficiencies
Deficits in cell-mediated immunity, and increased susceptibility to viruses and intracellular bacteria
Describe Congenital Thymic Aplasia (DiGeorge Syndrome or anomaly)
Hypoplasia or aplasia of the thymus, so T cells are reduced or absent
Give 4 examples of defects in innate immunity
Leukocyte adhesion deficiency type 1; Chediak-Higashi syndrome; Chronic granulomatous disease; Complement deficiencies
Describe Leukocyte adhesion deficiency Type 1 (LAD-1)
Mutation in LFA-1 and Mac-1, leads to reduced adherence to endothelium, poor chemotaxis, phagocytosis, cytotoxicity, and lymphocyte APC interactions; autosomal recessive
Describe Chediak-Higashi syndrome
Phagocyte abnormality-increased fusion of lysosomes resulting in giant cytoplasmic granules
Describe chronic granulomatous disease
Phagocyte abnormality affecting components of phagocyte oxidase. Nitroblue tetrazolium dye is used to test phagocyte oxidase activity; Because bacteria and fungi are not controlled, chronic activation of T cells and macrophages results
Describe complement deficiencies
C3 deficiency results in frequent and serious pyogenic bacterial infections
Describe Wiskott-Aldrich Syndrome
X linked recessive; loss of WASP, resulting in disruption of neutrophil, macrophage, lymphocyte and platelet trafficking; progressive and non-treatable
Describe Ataxia-telangiectasia
Autosomal recessive, involved with DNA repair. May affect both T and B cells, Thymus may be hypoplastic