Immune deficiencies Flashcards
congentital granulocytopenia (agranulocytosis)
primary immunodeficiency, caused by block in granulocyte maturation, neutropenia, lacks phagocytosis
complement deficiency
primary. caused by mutations/deletions in complement component. Classical pathway and C3 deficiency
complement deficiency
primary. caused by mutations/deletions in complement component. Classical pathway anc C3 deficiency
SCID
primary. caused by block in lymphocyte develpment. deficiency in T cells and B cells
hereditary angeoedema
defect in C1 inhibitor
C1 inhibitor
regulates blood clotting system
terminal complement components
C5, C6, C7, C8
C3 deficiency
failure to clear immune complexes
reticular dysgenesis
myeloid and lymphoid stem cells fail to differentiate during hematopoiesis (no b cells, no t cells, no neutrophils)
Bare lymphocyte syndrome type1
no HLA class 1 expression - low t cells but normal mitogen
Bare lymphocyte syndrome type 2
no HLA class 1 or class 2 expression - low t cells but normal mitogen
SCID (severe combined immunodeficiency)
deficient in the production of T-dependent antibodies and CMI - depressed B and T cell counts
complement deficiencies
functions of antibody and phagocytes are affected. ex: ()
AIDS
HIV-positive serology, CD4+ count less than 200
Cell-mediated immunodeficiencies
more sever than b cell deficiencies - impact humoral and cell mediated immunity b/c deficient assistance
Cell-mediated immunodeficiencies
more sever than b cell deficiencies - impact humoral and cell mediated immunity b/c deficient assistance
DiGeorge syndrome
congenital thymic aplasia, low T cell CD3+ counts
Humoral immune deficiencies
deficiencies in b cells
bruton’s x-linked agammaglobulinemia
normal pre-b cells but no/low maturation of b-cells and plasma cells
x-liinked hyper-IgM syndrome
low/no IgG, IgE and IgA but high IgM - defect in isotype switching
IgA deficiency
increased penetration of allergens and subsepuent Ig stimulation
Common Variable hypogammaglobulinemia
mature b cells are normal - defect in maturation of functional plasma cells - defects in both cytokine receptor expression and TH2 cytokine production (IL-5)
killing defects
chronic granulomatous disease
adherence defects
leukocyte adherence deficiency
adherence defects
leukocyte adherence deficiency
chronic granulomatous disease
defect in glucose-6-phosphate dehydronase and myeloperoxidase (decreased H202 during phagocytosis)
lazy leukocyte syndrome
deficiency in chemotactic factors C3a or C5a
Leukocyte adherence defieciency
the beta chain of CD18 is defective (inhibited extravasation of cells into extravascular tissue spaces)
qualitative deficiencies in neutrophils
defects at any point of the process of phagocytosis may limit the effectiveness of the phagocytic defense system
recombinant colony-stimulating factors
G-CSF, GM-CSF = neutropenia treatment
congenital agranulocytosis (kostmann syndrome)
complete absence of mature peripheral blood neutrophils (less than 200ul)
normal range of neutrophils
3,000 to 6,000/ul
opportunistic pathogen
microbe that doesn’t normally cause disease but does so if afforded the opportunity
primary immune deficiencies
congenital defects resulting in impaired immune responses
primary immune deficiencies
congenital defects resulting in impaired immune responses
Most common primary immunodeficiency
IgA deficiency
