Immune Deficiency Disorders

Front 1

Bruton's Agammaglobulinemia
Ass'd w/ what gene defect?

Back 1

X-linked
defect in tyrosine kinase gene ass'd with low levels of Ig (arrest of maturation at preBcell level - in bone marrow high # cells with cytoplasmic mu chains)
Recurrent bac infxn after 6 mos old

Front 2

Selective Immunoglobulin Deficiency

Back 2

usu IgA deficiency
defect in isotype switching (failure of heavy-chain gene switching in B cells)
lung and sinus infections

Front 3

DiGeorge Syndrome

Back 3

failure of 3rd and 4th pharyngeal arches
presents with TETANY d/t hypocalcemia
Cardiac defects
Abnl facies
Thymic hypoplasia (aplasia)
Cleft palate
Hypocalcemia
22 q11
Recurrent viral and fungal infections

Front 4

Chronic Mucocutaneous candidiasis

Back 4

T-cell dysfn specifically against Candida albicans

Front 5

SCID

Back 5

defect in early stem-cell differentiation
recurrent viral, bacterial, fungal, protazoal infxns
buzz: tyrosine kinase ZAP-70, IL-2 defect (X-linked), adenosine deaminase deficiency

Front 6

Wiscott-Aldrich

Back 6

(B+T cell deficiency)
IgM defect vulnerable against bacterial capsular polysaccharides
IgA elevation
1. pyogenic infections
2. eczema
3. thrombocytopenia

Front 7

Ataxia telangiectasia

Back 7

(B+T cell deficiency)
DNA repair defect: IgA deficiency
ataxia and spider angiomas

Front 8

Chronic granulomatous disease

Back 8

Defect in phagocytosis of neutrophils d/t defective NADPH oxidase
Susceptible to infxn by bac - esp Staph aureus, E coli, and aspergillus
Tx: IFN-gamma
DX confirmed by NEGATIVE nitroblue tetrazolium dye reduction test

Front 9

Chediak-Higashi

Back 9

Defect in microtubular fn and lysosomal emptying of phagocytes.
*recurrent pyogenic infxns by staph and strep

Front 10

Job's syndrome

Back 10

Th cells don't make IFN-g, so neutrophils fail to respond to chemotactic stimuli
*recurrent "cold" (noninflamed) abscesses, eczema, elev. IgA

Front 11

Leukocyte Adhesion Deficiency

Back 11

defect in LFA-1 proteins on phagocytes
presents early in life with severe pyogenic infections

Front 12

Hyper-IgM syndrome

Back 12

(Phagocytic deficiency)
Defect in CD40-L on CD4 T cells --> no class switching
presents early in life with severe pyogenic infections
elev IgM (low levels everything else)
TX: pooled gamma globulin
(70% cases are X-linked)

Front 13

IL-12 Receptor Deficiency

Back 13

(phagocytic deficiency)
Presents with disseminated mycobacterial infections - meningitis!

Front 14

What does complement defend against?

Back 14

gram negative bacteria

Front 15

What is the classic pathway for complement and what activates it?

Back 15

Activated by IgG and IgM
-is responsible for viral? neutralization, as it responds to Ag/Ab complexes
-C1 -> C1 esterase ->C2 and C4 -> C3 convertase -> C3 (-> C5 convertase/C5 -> -> MAC

Front 16

What is the alternative pathway for complement and what activates it?

Back 16

activated by microbial surfaces, toxins, endotoxin from gram- bac
-C3(H2O) +B+D -> C3 convertase/C3 -> C5 convertase/C5 -> -> MAC (made of MC5b, 6,7,8) -> lysis, cytotoxicity

Front 17

C3b is responsible for

Back 17

opsonization

Front 18

C3a and C5a can produce

Back 18

anaphylaxis

Front 19

C5b-9 can lead to

Back 19

cytolysis by membrane attack complex

Front 20

Deficiency of C1 esterase -> ?

Back 20

hereditary angioedema (overactive complement) - increased capillary permeability

Front 21

Deficiency of C3

Back 21

severe, recurrent, pyogenic sinus and respiratory tract infections
-increased susceptibility to staph aureus

Front 22

Deficiency of C6-C8

Back 22

Neisseria bacteremia (meningitis!)

Front 23

Deficiency of Decay Activating Factor (DAF)

Back 23

Paroxysmal Nocturnal Hemoglobinuria

Front 24

PNH (paroxysmal nocturnal hemoglobinuria)
-What is decreased?

Back 24

-complement-mediated hemolysis
-brown urine in the morning
-decreased LAP (leukocytic alkaline phosphatase)

Front 25

Which complement deficiency is most common?

Back 25

C2
-may be asx or may have lupus or rheumatoid dz

Front 26

C2 and C4 deficiencies are associated with what?

Back 26

SLE-like disease. (AI)

Front 27

Mechanism of interferon

Back 27

Induce production of a protein that inhibits viral protein synthesis by degrading viral mRNA (but not host mRNA)
(INTERFERon INTERFERes with viral protein synthesis)
-also stimulates NK cells to kill virus-infected cells

Front 28

IFN gamma

Back 28

increase MHC I and II expression and Ag presentation in all cells
-secreted by Th cells
-stim macrophages

Front 29

IL-1

Back 29

-secreted by macrophages
-stimulates Tcells, Bcells, neutrophils, fibroblasts, epithelial cells to grow, differentiate, or synthesize specific products
-an endogenous pyrogen

Front 30

IL-2

Back 30

-secreted by Th
-Stim growth of Th and Tc cells

Front 31

IL-3

Back 31

-Secreted by activated T cells
-supportsgrowth and differentiation of bone marrow stem cells
-fn similar to GM-CSF

Front 32

IL-4

Back 32

-secreted by Th
-promotes growth of B cells
-enhances synthesis of IgE and IgG

Front 33

IL-5

Back 33

-secreted by Th
-promotes differentiation of B cells
-enhances synthesis of IgA
-stim production and activation of eosinophils

Front 34

IL-8

Back 34

major chemotactic factor for neutrophils

Front 35

IL-10

Back 35

-secreted by Th
-inhibits Tc and IFN gamma

Front 36

TNF-alpha

Back 36

-secreted by macrophages
-increases IL-2 rec synthesis by Th
-increases B cell prolif
-attracts/activates neutrophils
-stimulates migration to lymph node
(found in low concentrations)

Front 37

TNF-beta

Back 37

-secreted by activated T cells
-sim to TNF alpha

Front 38

"HOT T-BONE stEAk" ?

Back 38

IL-1 - pyrogen
IL-2 - T cell stimulation
IL-3 - growth/stim BM stem cells
IL-4 - IgE synthesis
IL-5 - IgA synthesis

Front 39

Costimulatory signal for Th activation?

Back 39

CD28 on Th cell
B7 on B cell

Front 40

What proteins do macrophages have on their cell surface?

Back 40

MHC II and CD14

Front 41

What receptors do NK cells display on their cell surface?

Back 41

MHC I and CD16 - CD56 is most specific marker

Front 42

Which cells do NOT display MHC I?

Back 42

RBCs

Front 43

What is associated with high levels of TNF?

Back 43

septic shock
tumor necrosis

Front 44

TGF = transforming growth factor

Back 44

-T, B, macrophages
-inhibits T cells, dampens immune response
-enhances collagen synthesis

Front 45

After what exposures are patients given preformed antibodies? (4)

Back 45

Tetanus Toxin
Botulinum toxin
HBV
Rabies
(To Be Healed Rapidly)

Front 46

Bacteria that use antigen variation

Back 46

Salmonella (2 flagellar variants)
Borrelia (relapsing fever)
N. gonorrhea (pilus protein)

Front 47

Viruses that use antigen variation

Back 47

influenza (major=shift; minor=drift)
RSV?

Front 48

Parasites that use antigen variation

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trypanosomes (programmed rearrangement -> recurrent sleeping sickness)

Front 49

Common variable immune deficiency

Back 49

abnl B cell differentiation (but nl # of B cells - unlike agammaglobuliemia)
decreased plasma cells, inadequate immunoglobulin production
-usu low levels of all Ig
-recurrent bacterial infections

Front 50

lack of germinal centers in ____

Back 50

agammaglobulinemia
(and severe cases of SCID)

Front 51

SLE haplotype(s)

Back 51

HLA-DR2 and -DR3

Front 52

Diabetes type I haplotype(s)

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HLA-DR3 and -DR4

Front 53

Hemochromatosis haplotype(s)

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HLA-A3

Front 54

HLA-B21

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Psoriasis
Ankylosing Spondylitis
Inflm bowel disease
Reiter's sxme

Front 55

Rheumatoid arthritis

Back 55

HLA-DR4

Front 56

MHC I deficiency

Back 56

Inability to produce Tc cells, because they cannot be selected for in the thymus
-repeated viral infections
-serious infection after MMR vaccine

Front 57

Bare lymphocyte syndrome

Back 57

No MHC II -> no/ few CD4 cells, but normal level of B cells

Front 58

Antibody-dependent cell-mediated toxicity

Back 58

body reacts to large tissue parasites by coating them with IgE, which trigger eosinophil-mediated cytotoxicity (form of Type II hypersensitivity) and release of vasoactive and spasmogenic substances from mast cells and basophils (local anaphylaxis, a form of type I hypersensitivity)

Front 59

Antibody-dependent cell-mediated toxicity

Back 59

body reacts to large tissue parasites by coating them with IgE, which trigger eosinophil-mediated cytotoxicity (form of Type II hypersensitivity) and release of vasoactive and spasmogenic substances from mast cells and basophils (local anaphylaxis, a form of type I hypersensitivity)

Front 60

HLA-DR2

Back 60

Goodpasture sxme
allergy
MS
narcolepsy

Front 61

HLA-DR3

Back 61

celiac sprue
Type I Diabetes
SLE

Front 62

HLA-DR4

Back 62

Type I Diabetes
RA
pemphigus vulgaris

Front 63

HLA-DR5

Back 63

Pernicious anemia
juvenile RA

Front 64

HLA-DR7

Back 64

steroid-responsive nephrotic sxme

Front 65

IFN-alpha

Back 65

made by leukocytes
inhibits viral replication

Front 66

IFN-beta

Back 66

made by fibroblasts
inhibits viral replication

Front 67

Isotype switching requires what?

Back 67

1. IL-4 : binds to B cell
2. CD40 on B cell : binds to CD40L on activated T cell

Front 68

What are the 2 most important chemotactic factors for neutrophils

Back 68

C5a and IL-8

Front 69

Graves disease is ass'd w/ which HLA types?

Back 69

HLA-DR3
B8

Front 70

Which HLA types is Hashimoto's ass'd w/?

Back 70

HLA-DR5
B5

Front 71

Which Ig fixes complement only via the alternative pathway?

Back 71

IgA