Board Prep Immuno

Question 1

Antiphospholipid syndrome

Answer 1

Patient can present with thrombotic sequelae
RECURRENT miscarriages
3 antibodies: Lupus anticoagulant, Anti-cardiolipin antibody, Anti-beta2- glycogroptein antibody
often associated with SLE

Question 2

X-linked hyper-IgM syndrome

Answer 2

mutation in gene encoding CD40L
recurrent upper and lower resp disease and susceptibility to opportunistic infections
High IgM and low IgG

Question 3

Factor V Leiden mutation

Answer 3

genetic hypercoagulable state leading to increased thrombotic events
AD condition mutation of F5 gene
decreased PTT

Question 4

Essential thrombocytosis

Answer 4

erythromelalgia (burning of hands and feet)

large platelets

Question 5

CLL

Answer 5

asymptomatic at dx. blood smear with smudge cells

Question 6

CML

Answer 6

BCR-ABL gene t(9;22)

leukocytosis

Question 7

5-FU

Answer 7

drug that is converted to 5-deoxyuridine monophosphate and works by inhibition of thymidylate synthase
treat overdose with Thymidine

Question 8

Cryoglobulinemia

Answer 8

more symptoms at lower temperatures

complication of: MM, Mycoplasma, hep C

Question 9

AML Type M3

Answer 9

complication is DIC
treat with ATRA
Auer rods

Question 10

Lymphocyte depleted Hodgkin’s

Answer 10

has rare lymphocytes, many Reed-sternberg cells with variable eosinophils, plasma, histiocytes
Diffuse fibrosis

Question 11

Lymphocyte predominant

Answer 11

Sea of lymphocytes, variable histiocytes
Little fibrosis
no necrosis

Question 12

Mixed cellularity

Answer 12

mix of neutrophils, lymphocytes, eosinophils, plasma cells, histiocytes, large number RS cells
no fibrotic collagen bands

Question 13

Nodular sclerosing Hodgkin’s

Answer 13

mix of lymphocytes, histiocytes, a few eosinophils, plasma cells, and lacunar RS cells
Collagen bands create the nodular pattern
mostly women, mediastinal, supraclavicular, and lower cervical lymph nodes

Question 14

DIC

Answer 14

diffuse release of tissue factor triggers thrombus formation and uncontrolled bleeding
placental abruption is a risk factor

Question 15

SLE

Answer 15

Positive Coombs at 37C but not 4C

warm hemolytic anemia 1/4 autoimmune

Question 16

Goodpasture’s disease

Answer 16

anti-GBM disease
pulmonary hemorrhage and then acute glomerulonephritis
auto-antibodies (type II hypersensitivity)

Question 17

HUS

Answer 17

bacterial-toxin mediated inhibition of ADAMTS-13
a metalloproteinase that prevents von Willebrand’s factor multimer formation and diffuse microthrombus formation
microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia

Question 18

Azotemia

Answer 18

leads to platelet dysfunction and increase bleeding time with no changes in PT and PTT

Question 19

Heparin induced thrombocytopenia

Answer 19

started on anticoagulant and presents days later with an enlarging or new thrombus
Lab studies show thrombocytopenia and prolonged aPTT
antibody formation against heparin and platelet factor 4

Question 20

CLL/SLL

Answer 20

aymptomatic or vague symptoms in older adults
deletion of 13q4.3, 11q, or 17p
leukocytosis, lymphadeopathy, and smudge cells (cells that lack an identifiable cell membrane)
sheets of small lymphocytes with scant cytoplasm

Question 21

G6PD deficiency

Answer 21

X-linked Recessive

fava beans, primaquine

Question 22

Leukocyte adhesion deficiency type I (LAD I)

Answer 22

arises from defect in lymphocyte function associated antigen-1 (LFA-1) integrin protein
delayed separation of umbilicus

Question 23

Chronic granulomatous disease

Answer 23

NADPH oxidase deficiency
defective respiratory burst and susceptibility to infections with catalase positive organisms
nitroblue test measures activity of respiratory burst
X-linked manner
some AR forms

Question 24

Juvenile idiopathic arthritis

Answer 24

present with fever, pain in weight-bearing joints and uveitis
NSAIDs first line

Question 25

Dermatomyositis

Answer 25

``` Autoimmune proximal muscle weakness w/o pain heliotropic rash around eyes Gottron papules on DIP joints and poikiloderma rash (underlying malignancy) ```

Question 26

Etanercept MOA

Answer 26

blocks enzyme production | recombinant tumor necrosis factor used for RA

Question 27

Mixed connective tissue disease

Answer 27

Raynaud's, generalized edema dysphagia due to esophageal dysmotility antibodies to U1RNP

Question 28

Wiskott-Aldrich syndrome

Answer 28

``` X-linked recurrent bacterial, viral, and fungal infections as well as severe eczema Thrombocytopenia poor healing following laceration WASp mutation IgM decreased IgG normal IgA and IgE can be elevated ```

Question 29

IFN-y

Answer 29

activates macrophages and induces differntiation of mononuclear cells into epithelioid cells that produce granulomas in tuberculosis

Question 30

Anemia of chronic disease

Answer 30

long-standing inflammation Low serum iron high stored iron indicate iron sequestration

Question 31

Diffuse Large B-cell lymphoma

Answer 31

BCL6 rearrangement

Question 32

Anamnestic antibody response

Answer 32

delayed hemolytic reactins | occur upon second exposure to a foreign antigen

Question 33

Cold agglutinin disease

Answer 33

Complement C3b

Question 34

Hereditary spherocytosis

Answer 34

most commonly an AD disorder or ankyrin | positive osmotic fragility test

Question 35

Lead poisoning

Answer 35

uncoupling of oxidative phosphorylation

Question 36

Burkitt Lymphoma

Answer 36

t(8;14) | C-myc-Ig heavy chain

Question 37

Mixed cellularity Hodgkin's Lymphoma

Answer 37

heterogenous cellular infiltrate | most common in HIV patients

Question 38

Heparin induced thrombocytopenia

Answer 38

serum sickness like