Board Prep Immuno Flashcards
Antiphospholipid syndrome
Patient can present with thrombotic sequelae
RECURRENT miscarriages
3 antibodies: Lupus anticoagulant, Anti-cardiolipin antibody, Anti-beta2- glycogroptein antibody
often associated with SLE
X-linked hyper-IgM syndrome
mutation in gene encoding CD40L
recurrent upper and lower resp disease and susceptibility to opportunistic infections
High IgM and low IgG
Factor V Leiden mutation
genetic hypercoagulable state leading to increased thrombotic events
AD condition mutation of F5 gene
decreased PTT
Essential thrombocytosis
erythromelalgia (burning of hands and feet)
large platelets
CLL
asymptomatic at dx. blood smear with smudge cells
CML
BCR-ABL gene t(9;22)
leukocytosis
5-FU
drug that is converted to 5-deoxyuridine monophosphate and works by inhibition of thymidylate synthase
treat overdose with Thymidine
Cryoglobulinemia
more symptoms at lower temperatures
complication of: MM, Mycoplasma, hep C
AML Type M3
complication is DIC
treat with ATRA
Auer rods
Lymphocyte depleted Hodgkin’s
has rare lymphocytes, many Reed-sternberg cells with variable eosinophils, plasma, histiocytes
Diffuse fibrosis
Lymphocyte predominant
Sea of lymphocytes, variable histiocytes
Little fibrosis
no necrosis
Mixed cellularity
mix of neutrophils, lymphocytes, eosinophils, plasma cells, histiocytes, large number RS cells
no fibrotic collagen bands
Nodular sclerosing Hodgkin’s
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
DIC
diffuse release of tissue factor triggers thrombus formation and uncontrolled bleeding
placental abruption is a risk factor
SLE
Positive Coombs at 37C but not 4C
warm hemolytic anemia 1/4 autoimmune
Goodpasture’s disease
anti-GBM disease
pulmonary hemorrhage and then acute glomerulonephritis
auto-antibodies (type II hypersensitivity)
HUS
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
Azotemia
leads to platelet dysfunction and increase bleeding time with no changes in PT and PTT
Heparin induced thrombocytopenia
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
CLL/SLL
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
G6PD deficiency
X-linked Recessive
fava beans, primaquine
Leukocyte adhesion deficiency type I (LAD I)
arises from defect in lymphocyte function associated antigen-1 (LFA-1) integrin protein
delayed separation of umbilicus
Chronic granulomatous disease
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
Juvenile idiopathic arthritis
present with fever, pain in weight-bearing joints and uveitis
NSAIDs first line
Dermatomyositis
Autoimmune proximal muscle weakness w/o pain heliotropic rash around eyes Gottron papules on DIP joints and poikiloderma rash (underlying malignancy)
Etanercept MOA
blocks enzyme production
recombinant tumor necrosis factor used for RA
Mixed connective tissue disease
Raynaud’s, generalized edema
dysphagia due to esophageal dysmotility
antibodies to U1RNP
Wiskott-Aldrich syndrome
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
IFN-y
activates macrophages and induces differntiation of mononuclear cells into epithelioid cells that produce granulomas in tuberculosis
Anemia of chronic disease
long-standing inflammation
Low serum iron
high stored iron indicate iron sequestration
Diffuse Large B-cell lymphoma
BCL6 rearrangement
Anamnestic antibody response
delayed hemolytic reactins
occur upon second exposure to a foreign antigen
Cold agglutinin disease
Complement C3b
Hereditary spherocytosis
most commonly an AD disorder or ankyrin
positive osmotic fragility test
Lead poisoning
uncoupling of oxidative phosphorylation
Burkitt Lymphoma
t(8;14)
C-myc-Ig heavy chain
Mixed cellularity Hodgkin’s Lymphoma
heterogenous cellular infiltrate
most common in HIV patients
Heparin induced thrombocytopenia
serum sickness like
