Inherited Immunodeficiencies of Innate Immunity Flashcards
asplenia
susceptible to septic infections especially with encapsulated bacteria
counsel for vaccinations
prophylactic abx for dental work and if experiencing sings of resp infection
NK cell deficiencies
susceptible to viral infections and opportunistic mycobacterial species
susceptible to the fungus tricophyton
defective genes involved in: formation of granules, perforin, or NK development in the bone marrow
NEMO
defect in protein required for NfKB function»>lack of cytokines/chemokines
developmental defects: . deep set eyes, sparse and\or fine hair, conical teeth and a skin condition with blistering and changes in color of skin
susceptible to viral and bacterial infections
Leukocyte adhesion deficiency
genetic deficiency in CD18 (integrin adhesion molecule expressed by phagocytes)
phagocyte migration into inflamed tissue is defective and pt is susceptible for extracellular pathogens
delayed detachment and sloughing of the umbilical cord
esp sensitive to encapsulated bacteria
chronic granulomatous disease
defective NADPH oxidase
chronic bacterial and fungal infections
make granulomas more readily
very susceptible to S. aureus, E. coli, Klebsiella, Aspergillus, Nocardia, Candida, and maybe most notably, Serratia marcescens
Serratia is the most common infection in infants with CGD
chronic granulomatous disease diagnostics
nitroblue tetrazolium dye test
normal neutraphils produce NADPH oxidase that produces O2 species that oxidize the NTD to give a blue color
CGD pts don’t produce the blue color
dihydrorhodamine test is a flow cytometric assay that determines determines whether neutrophils produce an oxidative burst that can reduce dihydrorhodamine to rhodamine (which fluoresces green)
Chediak Higashi syndrome
defect in gene encoding the the LYST protein that is involved in intracellular vesicle formation
phagosome can’t fuse with lysosome
neutrophils have unique appearance-granules are large and irregularly shaped
3 main symptoms:
1. partial albinism
2. recurrent pyogenic infections
3. neurologic disorders
Neutropenia
low neutrophil count
susceptible to bacterial and fungal infections
non-functional granulocyte colony stimulating factor (G-CSF) or its receptor
a defect of the gene that encodes elastase
cyclic condition every 2-4 weeks
inherited complement deficiencies
- complete deficienciesof C3b=susceptible to bacterial infections
- deficiencies of C5-9=susceptible to Neisseria
- Deficiencies of complement control proteins sometimes are more susceptible to bacterial infections because of C3 depletion that results from constant activation of the pathways. Other deficiencies of complement control proteins can result in autoimmune-like destruction of RBCs due to excessive MAC formation
C1, C2, C4 deficiency
immune complex disease
C3 deficiency
no ability to activate any of the complement cascades, and it leaves a patient susceptible to bacterial infections, especially encapsulated bacteria
C5-9 deficiency
deficiencies result in no MAC formation and susceptibility to one genus of bacteria (Neisseria). C5 deficiency is more severe than C6-C9
factor D
critical component of the alternative pathway. Susceptibility to encapsulated bacteria and Neisseria results from this deficiency
factor I deficiency
because the final result is depletion of C3b. In this condition, there is reduced cleavage of C3b or C4b, allowing for abnormally high amounts of C3 convertase to form, resulting in an accelerating reaction that uses up all of the C3
MBL deficiency
results in increased susceptibility to severe bacterial infection. I suspect that the reason for this is that the acute phase response is impaired in these patients.
