CIS Flashcards
What is the cellular abnormality in LAD-1 (Leukocyte adhesion deficiency)?
Mutation in the gene for B2 integrin
CD-18 ( a cell adhesion molecule)
What is the immune defect in a patient with LAD-1?
Phagocytes have a hard time migrating to infected tissues.
What are the assx infections and diseases with LAD-1?
Widespread infections with capsulated bacteria.
What is the cellular abnormality in CGD (chronic granulomatous disease)?
NADPH oxidase is defective; thus, phagocytes cant make O2- (superoxide)
What is the immune defect in a patient with CGD?
Phagocytosed material cannot be killed.
We cannot break down shit we phagocytoze.
What are the associated infections and diseases with CGD?
Chronic bacterial infections and granulomas.
Which disease is this indicative of: neutrophils do not bind to intracellular adhesion molecules on the endothelial cells; a step necessary for them to go to the site of infection?
LAD
LAD; we have a deficiency of CD18 ( a cell adhesion molecule). Thus, our phagocytes cannot go to the site of infections.
In someone with with LAD, what would their neutrophil count be even when theres no infection?
2x the normal level because it cannot escape the tissue,
LAD is typically manifested by what?
- Hx of recurrent infections
- Skin ulcers
- Gingitivis
What are the two major types of CGD?
- X-linked CGD (most-common form)
2. Autosomal recessive CGD
CGD is a mutation in the NADPH oxidase; which subunit is the most common?
gp91-x-linked CGD
What is the best lab test to confirm CDG?
NBT (nitrobluetetrazolium) test;
Its bomb at detecting carrier states; which will have normal and abnormal neutrophils.
CGD forms granulomas; what is this?
Granulomas are masses of immune cells that form at the site of infection.
CGD is a ________ disorder; characterized by the tendency to form granulomas.
PHAGOCYTIC DISORDER
CGD is a defect in ____________ in phagocytes; resulting in a ffailure to make ________ and ________ .
Main result defective elimination of _______ pathogens; like bacteria and fungi
NADPH oxidase
Superoxide anion and O2 radicals
EXTRACELLULAR pathogens.
What pathogens are CDG patients more susceptible to?
Catalase positive organisms like bacteria and fungus.
Ex. S. aureus (bacteria)
Ex. Aspergillus spp. (fungus).
Do patients with CDG get recurrent infections of viruses?
No.
Only bacteria and fungi.
Major cause of daeth in pt with CDG?
Pulmonary aspergillus.
Why are patients with CDG more susceptible to infections from catalase positive individuals?
They make catalase that breaks down endogenously made H2O2.
Thus, it cannot be converted into bleach by MPO.
Why are CDG patients not susceptible to infections by a catalase negative pathogen?
When a catalase negative bacteria is taken in by neutrophil, H2O2 made by the bacteria will be converted to bleach by MPO, which will kill the bacteria in the phagosum.
In patients with CGD, why is there granuloma formation?
When a patient with CGD gets an infection, they often have extensive inflammatory reactions because [chemoattractants and antigens] cannot be broken down.
This leads to persistant neutrophil ACCUMULATION. If we canntot kill the microorganism; this may lead to persistant cell-mediated immune activation and granuloma formation because we keep trying to kill it.
Granulomas typically develop where?
SKIN
GI tract
GU tract
What are the molecular defects in LAD syndromes?
- Recurrent infections
2. Can’t form pus
Hall marks of LAD?
- Delayed seperation of the umbilical cord
- Omphalatis
- Recurrent infections with no pus formation
What is the best lab techniqye for LAD?
Flow cytometry- shows the absence of CD18.
