Tuesday 2 - Nelson - diseases of the immune system Flashcards
SLE
auto immune involving multiple organs
**characterized by the formation of ANAs - anti-nuclear antibodies. (autoantibodies)
Caused by deposition of immune complexes onto tissues
how do you Dx SLE*
measure ANAs with immunoassay (the ANA test) - this can be positive in like 3-4% of the population (who don’t have lupus, so THEN:
LOOK FOR ANTIBODIES AGAINST DOUBLE STRANDED DNA AND SMITH (Sm) ANTIGEN
also immunofluorescence, but immunoassay is used much more
ON THE TEST
What causes thrombosis in SLE?
Anti-phospholipid antibodies.
can cause SECONDARY spontaneous miscarriages and cerebral ischemia
What are the environmental triggers in SLE and what do they do pathologically
UV light
estrogen
medications
lead to apoptosis and increased burden of nuclear antigens
pneumonic for SLE
S - serositis
O - oral ulcers
A - arthritis
P - photosensitivity, pulminary thrombosis
B - Blood cells R - Renal, Raynauds A - ANA I - Immunologic N - neurophych
M - malar rash
D - discoid rash
what happens to the kidney in lupus
lupus nephritis, capillaries are full of immunocomplexes in a lumpy (!) fasion
in good pasures, it is smooth and not lumpy because the antibodies actually attack the basement membrane, where as SLE complexes just stick there randomly
Rheumatoid arthritis
autoantibodies target what
CCP - citrullinated peptides - formed when there is post translational conversion of arginine to citrulline (happens during inflammation)
RA
mass of inflamed synovium called what
pannus
Rheumatoid nodule - made of what
central fibrinoid necrosis surrounded by a palisade of macrophages
Shogren syndrome
dry eyes and mouth from autoimmune mediated destruction of lacrimal and salivary glands
can get parotid enlargement
look for SSa and SSb directed antibodies
systemic sclerosis (scleroderma)
associated syndrome?
possible causes of both?
autoimmune inflammation that causes widespread damage to small blood vessels (!) and progressive interstitial and perivascular fibrosis (!) of skin, organs
Heterogeneous
diffuse - rapid
limited - largely skin, extremeties, face.
**some patients with linited form develop the CREST syndrome (calcinosis, Reynaud’s, esophageal dysmotility, sclerodactyly, telangiectasia)
scleroderma cause may be antibodies to Scl-70 (DNA topo I), CREST patients may have anti-centromere antibodies.
dermatomyocytis
dermatomyositis - antoimmune, injury to small blood vessels and capillaries in skeletal muscle along with skin involvement and rash
15-20% of patients have underlying malignancy!!!!!
polymyositis
lack of skin involvement, but like dermatomyositis
MCTD
mixed connective tissue disease - anti-ribonuclear antibodies
it’s like lupus mixed with other autoimmune diseases
CCP antibodies***
present in RA
ANA***
antinuclear antibodies
the things you look for first in SLE
what test do you order if you suspect scleroderma
anti SCL-70 antibodies
X linked agammaglobulinemia
failure of b-cell precursors to develop into mature b cells
defect in bruton tyrosine kinase
common variable immunodeficiency
failure of b cells to differentiate into plasma cells
Isolated IgA deficiency
failure of b cells to differentiate into IgA producing plasma cells
DiGeorge
failure of development of the 3rd and 4rd pharyngeal pouches
hyper IgM syndrome
able to make IgM
can’t make IgG, IgA, IgE
SCID
severe combined immunodeficiency
bubble boy
profound defects of both hymoral and cell mediated immunity. without hematopoietic transplant (bone marrow transplant), death within a year
immunodeficiency with thrombocytopenia and eczema (wiskott-aldrich)
genetic defect?
x linked recessive disorder with thrombocytopenia, eczema, and marked vulnerability to recurrent infection.
caused by mutation of WASP (wiskott-aldrich syndrome protein): protein on short arm of X chromosome, which is believed to link membrane receptors, including antigen receptors, to actin filaments. get defects in cell migration and signal transduction
X-linked lymphoproliferative syndrome
inability to eliminate epstein-barr virus, leading to severe and sometimes fatal infectious mono and b cell lymphomas
deficiencies of the terminal components of compliment cause what
get recurrent neisseria infections
if someone has pneumocystis in their lungs, why do you think that is/
HIV until proven otherwise
