Tuesday 2 - Nelson - diseases of the immune system

Question 1

SLE

Answer 1

auto immune involving multiple organs

**characterized by the formation of ANAs - anti-nuclear antibodies. (autoantibodies)

Caused by deposition of immune complexes onto tissues

Question 2

how do you Dx SLE*

Answer 2

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

Question 3

What causes thrombosis in SLE?

Answer 3

Anti-phospholipid antibodies.

can cause SECONDARY spontaneous miscarriages and cerebral ischemia

Question 4

What are the environmental triggers in SLE and what do they do pathologically

Answer 4

UV light
estrogen
medications

lead to apoptosis and increased burden of nuclear antigens

Question 5

pneumonic for SLE

Answer 5

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

Question 6

what happens to the kidney in lupus

Answer 6

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

Question 7

Rheumatoid arthritis

autoantibodies target what

Answer 7

CCP - citrullinated peptides - formed when there is post translational conversion of arginine to citrulline (happens during inflammation)

Question 8

RA

mass of inflamed synovium called what

Answer 8

pannus

Question 9

Rheumatoid nodule - made of what

Answer 9

central fibrinoid necrosis surrounded by a palisade of macrophages

Question 10

Shogren syndrome

Answer 10

dry eyes and mouth from autoimmune mediated destruction of lacrimal and salivary glands

can get parotid enlargement

look for SSa and SSb directed antibodies

Question 11

systemic sclerosis (scleroderma)

associated syndrome?

possible causes of both?

Answer 11

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.

Question 12

dermatomyocytis

Answer 12

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!!!!!

Question 13

polymyositis

Answer 13

lack of skin involvement, but like dermatomyositis

Question 14

MCTD

Answer 14

mixed connective tissue disease - anti-ribonuclear antibodies

it’s like lupus mixed with other autoimmune diseases

Question 15

CCP antibodies***

Answer 15

present in RA

Question 16

ANA***

Answer 16

antinuclear antibodies

the things you look for first in SLE

Question 17

what test do you order if you suspect scleroderma

Answer 17

anti SCL-70 antibodies

Question 18

X linked agammaglobulinemia

Answer 18

failure of b-cell precursors to develop into mature b cells

defect in bruton tyrosine kinase

Question 19

common variable immunodeficiency

Answer 19

failure of b cells to differentiate into plasma cells

Question 20

Isolated IgA deficiency

Answer 20

failure of b cells to differentiate into IgA producing plasma cells

Question 21

DiGeorge

Answer 21

failure of development of the 3rd and 4rd pharyngeal pouches

Question 22

hyper IgM syndrome

Answer 22

able to make IgM

can’t make IgG, IgA, IgE

Question 23

SCID

Answer 23

severe combined immunodeficiency

bubble boy

profound defects of both hymoral and cell mediated immunity. without hematopoietic transplant (bone marrow transplant), death within a year

Question 24

immunodeficiency with thrombocytopenia and eczema (wiskott-aldrich)

genetic defect?

Answer 24

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

Question 25

X-linked lymphoproliferative syndrome

Answer 25

inability to eliminate epstein-barr virus, leading to severe and sometimes fatal infectious mono and b cell lymphomas

Question 26

deficiencies of the terminal components of compliment cause what

Answer 26

get recurrent neisseria infections

Question 27

if someone has pneumocystis in their lungs, why do you think that is/

Answer 27

HIV until proven otherwise