Immune deficiencies Flashcards
recurrent bacterial infections of H. influenza, S. pneumonia, S. aureus, small germinal centers
x-linked (brutons) agammaglobulinemia
sinopulmonary infections, GI infections, anaphylaxis with blood transfusions, autoimmune diseases
selective IgA def
tetany, recurrent viral/fungal infections, congenital heart and great vessel defects, abnormal facies
DiGeorge syndrome (11q22 deletion - 3rd and 4th pouch)
Th1 cells fail to produce IFN-gamma ( neutrophils don’t respond to chemotactic stimuli)
hyper-IgE or jobs syndrome
coarse faces, staph abscesses, retained primary teeth, derm problems (eczema)
hyper-IgE or jobs syndrome
defective IL-2 receptor (mutation on Y chain of cytokine receptor) or adenosine deaminase deficiency
SCID
failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial, fungal infections, absence of thymic shadow, germinal centers, T cells
SCID
defects in ATM gene with codes for DNA repair enzymes,
Triad: cerebellar defects, spider angiomas, IgA def, inc AFP
ataxia-telangiectasia
Defect in CD40L on Th cells = inability to class switch, pyogenic infections early in life, hemolytic anemia, pancytopenia
hyper IgM
x-linked, in WAS gene - T cells cant reoganize actin cytoskeleton, inc IgE
Triad: thrombocytopenic purpura, infections, eczema
wiskott-aldrich syndrome
delayed separation of umbilical cord, defect in LFA-1 integrin (CD18) on phagocytes (can’t leave BV)
leukocyte adhesion def
defect in lysosomal trafficking regulator gene (LYST). microtubule dysfunction in phagosome-lysosome fusion, giant granules in neutrophils - they can engulf but not break down
chediak-higashi syndrome
lack of NADPH oxidase - dec in reactive oxygen species. Inc susceptibility to CATALASE + organisms (s. aureus, E. coli, Aspergillus)
chronic granulomatous disease
negative nitroblue tetrazolium dye stain
chronic granulomatous disease
