lecture 12 Flashcards
What form do the misshapen proteins take on during amyloidosis?
beta pleated sheets.
If you find unexplained kidney, heart, and brain problems what should you think?
Amyloidosis
How do you stain amyloid?
congo red
What happens to the amyloid appearance when you add polarized filters?
you see and apple-green birefringence.
Multiple myeloma and other B cell abnormalities are associated with the major febrile protein_________?
AL protein
Chronic inflammatory conditions are associated with the major febrile protein_________?
AA protein
Chronic renal failure is associated with the major febrile protein _______?
AB2m protein (B=Beta)
Alzheimers disease is associated with the major febrile protein_______?
AB protein (B=Beta)
Prion diseases is associated with the major febrile protein ________?
PrPsc (AKA miss folded prion protein)
what is the precursor protein to AL protein in multiple myeloma?
Immunoglobulin light chains
what is the precursor protein to AA protein in chronic inflammatory diseases?
SAA protein
what is the precursor protein to AB2m in chronic renal failure?
B2 microglobulin
what is the precursor protein to AB in Alzheimers disease?
APP protein
what is the precursor protein to misfolded prion protein?
Normal prion protein
What are 6 major causes of secondary amyloidosis?
SLE Tuberculosis Rheumatoid arthritis Ulcerarive colitis Tumors Sarcoidosis
If you have a heart that has been affected by amyloid, what changes will you generally see?
coloration changes (yellow/pinking plaques) Size if the organ increases
T/F Amyloidosis can cause brown spots on the skin that look like a bruise?
TRUE
Dark and swollen legs, enlarged tongue, and purpura around the eyes are all characteristic of what ?
amyloidosis
What happens to vessels when they collect a large amount of amyloid within them?
they become prone to aneurysm.
Why do bleeding disorders often accompany amyloidosis?
1) difficult to repair damage to vessel with so much amyloid
2) Amyloid absorbs factor 10 preventing normal clotting.
Nephrotic syndrome, organomegly, bleeding disorders, and intracerebral hemorrhage define which disease?
amyloidosis.
Reasons to consider immunodeficiency include (6)?
1) persistent/frequent infections or inflammation
2) opportunistic infections
3) atypical autoimmunity
4) unexplained lymphadenopathy/splenomegly.
5) family history of immunodeficiency
6) congenital abnormality with symptoms (Ex: digeorge)
Once you think that the person has an immunodeficiency, you will want to determine if it is B cell or T cell deficiency. What are some signs that it is a B cell deficiency (2)?
1) recurrent infections with extracellular encapsulated bacteria.
2) recurrent pulmonary disease (every winter getting pneumonia)
Once you think that the person has an immunodeficiency, you will want to determine if it is B cell or T cell deficiency. What are some signs that it is a T cell deficiency (5)?
1) recurrent infections with opportunistic infections. (fungi, viruses, pneumocystis)
2) Potentially fatal reactions to live virus vaccines
3) susceptibility to GVH disease
4) growth retardation, wasting, diarrhea
5) increased malignancy
Where is the best source of information on the latest up to date info from immune deficiencies?
The international union of immunological societies expert committee.
What are the two types of severe combined immune deficiency?
1) XLR SCID2) AR SCID
CD-40 ligand is on what cells?
T cells
50% of the SCID patients have what type of SCID?
X-linked SCID
With X-linked SCID, there is a defect in _________, that is shared by which interleukin receptors?
Common gamma chain.IL 2,4,7,9, & 15
T/F the IL 7 receptor can cause SCID alone?
True but this is very rare.
What is the most common cause of autosomal recessive SCID?
Adenosine deaminase deficiency.
Besides the adenosine deaminase deficiency, what else can cause autosomal recessive SCID?
A JAK3 deficiency (Janus Kinase 3)
What do you see in hyper IgM syndrome? What is the most likely cause of this?
1) A lot of IgM and no IgA, IgG, and IgE
2) A deficiency in the CD-40 ligand is most common.
What major effect does CD-40 have on immunoglobulin production?
It promotes class switching.
What causes digeorge syndrome?
underdeveloped thymus
What is highly associated with digeorge syndrome?
congenital heart defects.
Which cells are mainly affected in digeorge syndrome?
CD 8 T cells
Which chromosome is deleted in digeorge syndrome?
22q11
Which 5 things are associated with digeorge syndrome?
CATCH 22 Cardiac defects Abnormal faces Thymic hypoplasia Cleft palate Hypocalcemia
What causes Wiskott-Aldrich syndrome?
A mutated WAS gene on the X chromosome.
What effects does a mutated WAS gene on the X chromosome have?
It messes up actin polymerization, and decreases response to polysaccharide antigens.
What signs do you see with Wiskott-Aldrich syndrome?
T cells declined. (IgM down, IgA and IgE up)
What is X linked agammaglobulinemia and what causes it?
1) An x linked disorder marked by decreased B cells and immunoglobulins.
2) It is caused by a defect in a gene coding for brutons tyrosine kinase (BTK)
Which enzyme is critical for B cell development?
Brutons tyrosine kinase.
Which disease is described by severe reduction of at least 2 serum immunoglobulins, and IgM will never be increased? (Note: relatives sometimes have IgA deficiencies)
Common Variable immunodeficiency
which disease is described as the most common immune deficiency of people of northern European origin, B-cells and IgA are present, but IgA is in very low quantity, and most individuals are asymptomatic?
IgA deficiency
Mutations in TACI and CVID genes can lead to which disease?
IgA deficiency
What happens if you are unable to form IFN?
You cant form granulomas
