Immune deficiencies Flashcards
bruton disease
pre beta cell don’t differentiate
bruton tyrosine kinase - mutated - nonfunctional
maturation stops after heavy chain rearrangement
absent B cells
rudimentary germ centres
manifest at 6 months
infections by influenzae, pneumoniae, staph aureus, virus, giardia
paradox - autoimmunity
common variable immunodeficiency
2nd/3rd decade
plasma cells are absent
susceptibility to infections
b cell defect, t cell defect, tcell suppressor activity increased
isolated igG deficiency
block in terminal igG producing b cell differentiation
sinopulmonary infections
diarrhea
associated autoimmune disorder
hyper IgM
heavy chain class isotypes switching (switching depends on cytokines, contact with t cells cd40 ligand) mutations - cd40 ligand gene mutation of cd40 gene activation induced deaminase gene
no IgG, A, D, E - also affinity of the antibody for ag is low
cd 40 - cd 40 ligand
macrophage activation
di george syndrome
deletion 22q11
congenital defect
in thymic development (3rd, 4th pharyngeal pouch involvement)
parathyroid hypoplasia
tetany
SCID
mutations gamma cytokines receptor coding gene
ADA mutations
thymus hypoplastic
lymphoid tissue
Defects in lymphocytes activation
transcription factor mutation
th17 (fungi)
th1 (intracellular bacteria)
mutations in gene encoding ca channel
wiskott aldrich syndrome
x linked
thrombocytopenia
eczema
defective WAS protein (links receptors to cytoskeleton) formed - cytoskeletal abnormalities, signal abnormalities
deficiency c3
pyogenic infections
deficiency c1q, 4, 2,
risk of immune complex mediated disease
c5-c9
neisseria with thin membrane
c1 inhibitor deficiency
hereditary angioedema
NADPH oxidase deficiency
granulo
integrin, selectin deficiency
adhesion disorders
