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1. contrac- Body's immune system goes back to___and some of

tion/homeosta- the lymphocytes that are no longer being stimulated by
sis antigen are not needed and begin to die by apoptosis
(programmed cell death)

2. regulatory T cell Antigen-specific CD4 T-cell that functions to suppress or

limit immune responses
Suppress CD4 and CD8 T cell effector functions
Identified by expression of CD3, CD4, CD25, FOXP3
When activated, produce IL-10, TGF-B (anti-inflammato-
ry cytokines)

3. lymphocyte tis- Lymph nodes > spleen > bone marrow = intestines >
sue distribution lungs > skin > blood = liver

4. germinal center Center region of lymphatic nodule of a lymph node where

lymphocytes mature
Contain rapidly dividing B cells

5. chemokines Type of cytokine

Attract leukocytes to site of inflammation

6. innate immunity Immediate, always present in body

Specificity for structures shared by classes of microbes or
damaged cells
Limited diversity of receptors
Nonclonal-identical receptors on all cells of same lineage
Memory cells respond in same way every time
Stimulated by pathogen-associated molecular patterns
(PAMPs)

7. adaptive immuni- Delayed speed of response

ty Highly defined specificity
Two types of receptors but with high diversity
Clonal-clones of lymphocytes with distinct specificities
express different receptors
Memory cells remember and respond quicker and
stronger

8.
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pattern recog- Recognize highly conserved, repetitive structures
nition receptors Recognize essential microbial products --> micros cannot
(PRRs) mutate to evade innate immunity
Located in distinct cellular compartments (cytosol, extra-
cellular, endosome)

9. toll-like recep- Present at cell surface and in endosomal compartments,

tors avoid attaching host structures
Each binds a different class of microbial structures
Specific for different components of microbes
Cell surface - microbial proteins, lipids, polysacchrides
Endosome - nucleic acids of digested microbes
ex. NFkB, IRFs

10. C type lectin re- Class of PRRs

ceptors (CLRs) In plasma membrane
Recognize carbohydrates, some specific viruses

11. retinoic acid in- Class of PRRs

ducible gene In cytoplasm
(RIG) I like recep- Recognize viral RNA
tor (RLRs) Induces type I interferon production

12. DNA sensors Class of PRRs

In cytoplasm
Recognize viral DNA
Induces type I interferon production
ex. AIM2, DHX9

13. NOD like recep- Class of PRRs

tors In cytoplasm
Sense DAMPs and PAMPs
NOD1/2 - recognize bacterial peptidoglycans
NLRPs - recognize multiple structures, enhances produc-
tion of IL-1B (inflammatory cytokine
- gain of function mutation --> autoinflammatory syn-
dromes

14. inflammasome NLRP3 + adaptor + capase 1

Recognize substance --> oligomerizes with adaptor pro-
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tein + inactive capase 1 --> active capase 1 --> cleave
pro-IL-1B --> active IL-1B --> acute inflammation

15. intraepithelial T T cells but express antigen receptors of limited diversity

lymphocytes Recognize microbial lipids and shared structures
Express gamma, delta receptors/chains
Patrol epithelial layers

16. neutrophils Most abundant blood leukocytes (PMNs)

First responders to site of infection
Rapid turnover/short lifespan
Develop from bone marrow stem cells
Recruited by granulocyte colony stimulating factor
(G-CSF)
Up to 20 k/ul during infection
Low numbers - more susceptible to infections

17. monocytes Less abundant in blood (.5-1 k/ul)

Ingest microbes in blood and tissue
Differentiate into macrophages in tissues
Survive for long periods of time

18. macrophages 1. resident - been in tissues since development, plays roll

in homeostasis
- liver, brain, lungs
2. monocyte derived
Produce cytokines that induce and regulate inflammation
Ingest and destroy microbes
Clear dead tissues and initiate tissue repair

19. respiratory burst Activation of NADPH oxidase complex reacts with O2 to

create/rapidly release ROS to kill microbes
Plays role in creation and neutralization of ROS

20. dendritic cell Produce cytokines to initiate inflammation and activate T

cell lymphocytes
Triggered by PAMPs, DAMPs
Found in tissues, epithelium lymphoid organs
Bridge between innate and adaptive immunity

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21. mast cells Bone-marrow derived cells found in skin and mucosal
epithelium
Activated by PAMPs, DAMPs
Contain amines that cause vasodilation and increased
capillary permeability
Proteolytic enzymes that can kill bacteria or inactive mi-
crobial toxins
Lipid mediates (prostaglandins) and cytokines (TNF) -->
inflammation
Bind to IgE antibody to produce allergic reactions

22. innate lymphoid Do not express T cell antigen receptors

cells Perform similar functions - secrete cytokines, can directly
kill cells
Differentiate in response to environmental cues

23. natural killers Part of innate immune system

cells (NKs) Kill cells when exposed to nonspecific activation signal on
target cell or absent MHC I molecule
Also kills by ADCC (Fc binds to CD16/FcyIII)
Activity enhanced by IL-2, IL-12, IFN-a, IFN-B
Contain abundant cytoplasmic granules --> induce apop-
tosis in target cells via perforin and granzymes
Activation controlled by balance of activating (NKG2D,
CD16) and inhibitory (KIRs) receptors

24. complement sys- System of hepatically synthesized plasma proteins that

tem play a role in innate immunity and inflammation
May proteins are enzymes that produce reactive proteins
C3b - primary opsonin in bacterial defense, enhances
phagocytosis and helps clear immune complexes
Formation of membrane attack complex (MAC) - bacterial
cell lysis
1. alternative pathway - innate, activated by microbe sur-
face molecules
2. classic pathway - requires IgG or IgM for activation
3. lectin pathway - innate, activated by mannose or other
sugars on microbe surface

25. collectins
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Stick to microorganisms and makes them better targets
Part of acute phase response
Mannose binding lectin, surfactant, C-reactive protein,
fibrinogen

26. cytokines Form communication network in immune system

Majority from dendritic cells, mast cells, macrophages
Activation, recruitment, differentiation of lymphocytes
ex. TNF, IL-1, IL-10, IL-12, IL-gamma

27. inflammatory re- 1. Microbe breaches epithelium

sponse 2. Resident immune cells produce cytokines, histamines
3. Endothelium is activated and becomes permeable
4. Phagocytes are recruited from blood into extravascular
space (plasma proteins)
5. Acute phase proteins leak into tissues (leukocytes)
6. Microbes and dead cells are eliminated

28. rolling of leuko- Selectin expressed in response to TNF, IL-1

cytes Circulating neutrophils, monocytes, express surface car-
bohydrates that bind specifically to selectins
Neutrophils become tethered to endothelium - disrupted
by blood flow - rebinds downstream- repetitive cycle

29. firm adhesion Leukocytes express integrins which are present in low
affinity state on inactive cells
Site of infection --> macrophages and endothelial cells
produce chemokines which bind to proteoglycans on en-
dothelial surface
Chemokines stimulate rapid increase in affinity of inte-
grins for ligand on endothelium
TNF, IL-1 act on endothelium to stimulate expression of
ligand for integrins
Binding of integrins to ligands - arrest rolling leukocytes -
cytoskeleton formation change

30. leukocytes adhe- Deficient integrins and selectins - no leukocyte recruit-

sion difficulty ment
Increased susceptibility to infection

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Inability to make pus
Umbilical cord does not separate

31. NET Neutrophils can release granules in extracellular space

Release of chromatin traps microorganisms

32. interferons Chemicals released by cells under viral attack

Act in autocrine and paracrine manner to protect unaffect-
ed cells
Increase function of NK cells and T cells to promote
antibody production
Inhibit viral replication and destroy viral genomes

33. humoral immuni- B cells

ty Produce antibodies
Respond to microbes outside cell; soluble antigens
Virus, bacteria, toxin

34. cell mediated im- T cells

munity Target pathogens inside cell - cell associated antigen
Eliminate infected cells

35. cytotoxic T cells CD8 surface molecule

(CTLs) Function - cell killing
Cytosolic antigens
Recognize MHC I molecules

36. helper T cells CD4 surface molecule

(TH) Promote macrophage activity, B cell function
Endosomal antigens
Recognize MHC II molecules

37. MHC I Transmembrane alpha chain

Stabilized by noncovalently-associated B2 microglobulin
Peptide binding cleft composed of a-helices
Expressed on most nucleated cells
Binds short peptides (8-11 AA)
Antigen presentation to cytotoxic T cells (CD8+)

38. MHC II
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Two transmembrane proteins - alpha, beta chains
No B2 microglobulin
Expressed only on APCs - restricted pattern of expres-
sion, allows for control of immune system
Binds to longer peptides (10-30 AA)
Antigen presentation to helper T cells (CD4+)

39. major histocom- 1. Polygenic - multiple gene loci of each class

patibility com- 2. Genes are polymorphic - change in AA affects interac-
plex (MHC) tions with T cell receptor
3. Expression of genes is codominant - no allelic exclusion
(both parental alleles expressed)

Set of genes involved in antigen presentation on T cells

Identified for their important in tissue transplant rejection
Genes found on chromosome 6

40. human leukocyte Gene complex encoding MHC proteins

antigen (HLA) Clusters of genes important for gene regulation
MHC II locus - DP, DQ, DR and DM, proteasome genes
MHC I locus - B, C, A
MHC III locus - complement proteins, cytokines

41. bare lymphocyte Loss of MHC I expression

syndrome type I Mutations in transporter genes (TAP1/2) - no peptide to
ER
Rare, late in childhood
Chronic bacterial infections often in respiratory tract

42. MHC I peptide 1. Pathogen enters cells and synthesizes proteins

generation 2. Abundant proteasomes shred pathogen and cell pro-
teins into peptides
3. Peptides translocate from cytosol to ER via TAP where
MHC is inserted (ATP dependent movement)
4. Chaperones help with loading of peptides onto MHC
5. Peptides are trimmed for MHC complex stability -->
Golgi --> cell surface

43. Loss of MHC II expression

Mutations in transcriptional activators - reduced number
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bare lympho- of CD4+ T cells
cytes syndrome No regulation of immune system
type II Recurrent viral, fungal, and bacterial infections
Persistant and severe diarrhea
Death in early childhood

44. bare lymphocyte Loss of MHC I and MCH II expression

syndrome type III Mutations in transcriptional activators
Recurrent viral, fungal, and bacterial infections
Persistant and severe diarrhea
Death in early childhood

45. viral inhibition of Blocks peptide binding to TAP (herpes)

MHC I pathway Retention of MHC I in ER (adenovirus)
Targets MHC I to cytosol (cytomegalovirus)

46. MHC II peptide Extracellular proteins/debris are taken up into endo-

generation somes
Endosomes fuse with lysosomes where proteins are de-
graded by proteasomes
Peptides associate with MHC II which have been trans-
ported from ER to endosome
MHC-peptide complex is expressed on cell surface

47. invariant chain Allows MHC II to travel to endosome without binding

peptides
Binds to MHC II binding groove in ER
Starts signaling domain that targets MHC II to endosome
Cleaved by proteases in endosome --> CLIP
CLIP removal facilitated by HLA-DM
HLA-DM also facilitates loading of stable peptides onto
MHC II

48. professional Dendritic cells, macrophages

APC Have both MHC I and II molecules
Able to present antigen to both CD4+ and CD8+ T cells
Antigen can come from phagocyte of infected cell
Via MHC class II present antigens to T cells

49.
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cross presenta- Capture of antigen by a professional APC and delivery to
tion the MHC I pathway
Important when pathogens fail to directly infect APCs
Take material cells have phagocytosed and shuttle some
into cytoplasmic pathway out of endoplasmic pathway
Active both CD8+ and CD4+ T cells

50. B cell receptors Membrane bound antibody composed of heavy and light
chains
Each chain contains one constant and one variable region
Recognize various chemical structures of microbes, tox-
ins
Recognize linear and conformational epitopes
Exist in membrane bound and secreted forms
Signaling proteins: Ig-alpha, Ig-beta

51. T cell receptors Composed of a and B chains

Heterodimeric
Each chain has one constant and one variable region
Recognize peptides displayed on APCs bound to MHC
molecules - recognizes as few as 1-3 residues
Recognize only cell-associated microbes
Recognize consecutive linear sequence epitopes
Always membrane bound
Binds to MHC-complexes with low affinity which is
strengthened by additional adhesion molecules
Signaling proteins: CD3, zeta (¶)chain
No secretion, affinity maturation, or class switching

52. variable regions Antigen recognizing domains

Sequence variability concentrated within hypervariable or
complementarity-determining regions (CDRs)
Maximize antigen-binding variability while retaining basic
structure

53. Fab Antigen binding fragment of B cell receptor

Contains whole light chain (VH + VL) attached to attached
to V and first C domains of a heavy chain (CH1 + CL)
Important for antigen recognition

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54. Fc Crystalline fragment antibody

Remaining heavy light chain C domains
Responsible for biologic activity and effector functions of
antibodies
Complement binding
Carbohydrate side chains
Determines isotype

55. heavy chains Five types - IgG, IgM, IgD, IgE, IgA
Vary in constant (C) regions
Each isotype has distinct physical and biologic properties
and effector functions
Naive B cells - IgM, IgD
After stimulation - IgA, IgE, IgG
Variable (V) regions do not change

56. light chains Kappa (k) and lambda varieties

Only express one type
Differ in C regions
No functional differences and fixed for each B cell clone,
regardless of heavy chain class switching
Kappa: lambda = 2:1

57. avidity Accumulated strength of multiple affinities of individual

non-covalent binding interactions
Low affinity = high ___
High affinity = low ___
ex. IgM - 10 antigen binding sites due to pentamer con-
formation

58. cross reaction Reaction of one antigen with antibodies developed

against another antigen
Antibodies produced against one antigen may bind other,
structurally similar antigens
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59. monoclonal anti- Specific antibody produced from a population of identical

bodies cells
Pure preparations of identical antibodies that exhibit
specificity for a single antigen
Somatic hybridization
Obtain B cells from immunized animal and fused myelo-
ma cells
Can inject into humans after replacing foreign Ig with
human Ig using recombinant DNA technology
ex. rituximab, trastuzumab

60. lymphocyte de- 1. Hematopoietic progenitor

velopment 2. Commit to B or T cell lineage
3. Proliferation - stimulated by IL-7
4. Rearrangement and expression of antigen receptor
genes
5. Selection events to preserve and expand cells that
express potentially useful antigen receptors

61. positive selec- Immature T cells are selected to survive only if they rec-
tion ognized MHC molecules in thymus
Weak or moderate binding of self antigens to TCR or BCR
Based on expression of complete antigen receptors, not
recognition specificity of cells
Low avidity
In thymic cortex

62. negative selec- Eliminate potentially dangerous lymphocytes and prevent

tion development of autoimmune responses
Strong recognition of self-peptide within MHC - apoptosis
High avidity
In thymic medulla

63. VDJ recombina- Generate antigen recognition sites of receptors ex-

tion pressed on B and T lymphocytes
Mediated by recombinase + additional enzymes
Produces VJ/VDJ exon without intervening DNA seg-
ments
Recombinase expressed in immature B and T lympho-
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cytes
Mediates in both Ig and TCR genes - lineage specific
transcription factors

64. IgA Often secreted from mucosal surfaces

Can migrate across epithelial cells - part of Celiac Dis-
ease
Protects against gut infections
Dimer in plasma
Prevents attachment of bacteria and viruses to mucous
membranes
Monomer serves as B cell receptor

65. IgE Responsible for allergic reactions - mediate release of

histamine
Binds mast cells and basophils
Contributes to immunity to worms by activating
eosinophils

66. IgG Main blood antibody in secondary response to antigen

Fixes complement
Opsonizes bacteria
Neutralizes bacterial toxins and viruses

67. T cell response 1. Naive T cells recognize antigens in peripheral lymphoid

organs
2. Secretion of cytokines and increased expression of
cytokine receptors
3. Some cytokines stimulate proliferation of antigen-acti-
vated T cell --> clonal expansion
4. Activated lymphocytes undergo differentiation - effector
T cells or memory T cells
5. Stimuli that triggered T cell expansion and differenti-
ation are eliminated --> only memory cells remain from
immune response

68. effector T cells Eliminate microbes

CD8 - leave lymphoid organs, enter circulation, migrate to
site of infection to eradicate

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CD4 - some remain in lymph node to provide signals to B
cells to promote antibody responses

69. antigen recogni- 1. When TCR recognizes peptide-MHC complex, CD4 or

tion CD8 recognizes class II or class I molecule at separate
site from peptide-binding cleft
2. TCR is noncovalently associated with complex of trans-
membrane signaling molecules- 3 CD3 proteins + zeta
chain
3. Adhesion molecules stabilize binding of T cells to APCs
for long periods of time allow for signaling threshold to be
reached
4. costimulator - second signals for T cell activation, pro-
vide stimuli to T cells that function together with stimula-
tion by antigen (ex. B7 recognized by CD28 receptor on
T cell)

70. adjuvants Substances that activate APCs when antigen alon fails to
elicit T cell-dependent immune responses
Induce expression of APC costimulators and T cell acti-
vation through cytokine secretion
Often products of microbes/mimic microbes
Bind to PRRs (toll-like, NOD-like)
Trick immune system into responding to purified protein
antigens

71. CTLA-4, PD-1 Inhibitory receptors

Terminate responses of activated T cells
Evolved to prevent immune responses against self anti-
gens
Involved in inhibitory responses to some tumors, chronic
viral infections

72. nuclear factor of Transcription factor present in inactivated phosphorylated

activated T cells form in cytoplasm
(NFA) pathway Activation and nuclear translocation depends on Ca++
concentration in cytosol
Pathway initiated by phosphorylation of phospholipase
--> IP3 generation --> stimulates release of Ca++ from
ER
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Activation of calcineurin (phosphatase) dephosphory-
lates NFAT --> nuclear translocation --> activates promot-
er of IL-2 and receptor genes

73. cyclosporine Inhibits calcineurin

Suppression of cytokine production
Immunosuppressive drug to prevent graft rejection

74. T cell respons- 1. Secretion of cytokines - ex. IL-2 (proliferation and sur-
es to antigen and vival of T cells)
costimulation 2. Clonal expansion
3. Differentiation of naive T cells into effector cells
4. Development of memory T cells

75. C3 deficiency Increased risk of/predisposed to sepsis

Depressed ___ seen in active lupus
Increased susceptibility to type III hypersensitivity reac-
tions and bacterial infections

76. No alternative Increased risk of sepsis if antibodies are not formed

pathway

77. No later compo- Cannot kill Neisseria bacteria

nents (C5-9)

78. Defects in ear- *Recurrent sepsis

ly components No removal of immune complexes --> increased chance
(C2-4) of getting lupus

79. defective C1 INH Inhibitory esterase

Predisposed to hereditary angioedema
Increased bradykinin
Characterized by decreased C4 levels

80. CH50 Test to measure function of complete classical pathway

If you have antibody against cell but no complement -->
no cell rupture
If you do have complement --> cell rupture

81.
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hereditary an- Deficiency of C1 esterase inhibitor
gioedema Decreased C4
Normal C3 level
Abdominal pain, limb and facial swelling
Responds to C1 esterase inhibitors
No underlying disease, urticaria
Does not respond to epinephrine
Usually a family history
Age of onset: 6-20 years

82. cellular effect of Loss of tight junction

bradykinin Increased actin in cells

83. C1 esterase in- Inhibits C1 -> C4 in classical complement

hibitor Inhibits Factor 12 --> Factor 12a in contact system
Inhibits Factor 12A --> kallikrein
Inhibits kallikrein action for HMW kininogen --> bradykinin
Inhibits fibrinolytic system

84. contact system Factor 12 --> Factor 12a --> (pre-kallikrein - kallekrein) -->
(HMW kininogen - bradykinin) --> bradykinin B2 reeptors
--> cGMP --> vasodilation --> edema
Loss of tight junction
Increased actin in cells
Inhibited by C1-INH

85. immunodeficien- Defects in one or more components of the immune sys-

cy disease tem
Increased susceptibility to infections
Deficient humoral immunity: encapsulated pus-forming
bacteria
Defects in cell-mediated immunity: infection by viruses
and intracellular microbes
Combined: all classes of microorganisms

86. primary/congeni- Caused by genetic defects

tal Manifest in infancy and early childhood
immunodeficien- 1 in 500 born with a defect
cy

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87. secondary/ac- Malnutrition
quired Disseminated cancer
immunodeficien- Treatment with immunosuppressive drugs
cy Infection of cells of immune system (notably HIV)

88. Chronic Granulo- NADPH oxidase deficiency

matous Disease Affects 1 in 200,000 individuals in US
(CGD) Mutation in gene encoding phox-91
Granulocytes cannot produce superoxide, which kills
pathogenic bacteria
X linked most common
Increased susceptibility to catalase + organisms
Failure to kill phagocytosed microbes - recurrent fungi
and bacterial infections
Tx: IFN-gamma, antibiotics

89. Leukocyte Ad- Failure of leukocyte recruitment to sites of infection

hesion Defects Severe periodontitis and recurrent infections starting ear-
(LAD) ly in life
Inability to make pus
Umbilical cord does not separate

90. Leukocyte Adhe- Autosomal recessive

sion Defect type Recurrent bacterial and fungal infections
1 (LAD-1) Impaired wound healing
Delayed umbilical cord separation and leukocytosis
**Mutations in CD18 gene: defect in ²2/LFA-1 integrins
(participate in adhesion of leukocytes to other cells)
Impaired migration and chemotaxis/motility

91. Leukocyte Adhe- Recurrent infections and leukocytosis

sion Defect type **Severe mental and growth retardation
2 (LAD-2) **Abnormality in fucosylation
Absence of sialyl Lewis X: required for binding of leuko-
cytes to endothelium
Defective recruitment of leukocytes to sites of infection
Bombay blood group phenotype

92. **Defective platelet aggregation --> life-threatening bleed-

ing disorder
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Leukocyte Adhe- Normal blood platelet counts
sion Defect type Mutations in gene encoding KINDLIN-3 (found in some
3 (LAD-3) integrins required for leukocyte adhesion and platelet ag-
gregation)

93. Chediack-Hi- Autosomal recessive disorder

gashi Syndrome Recurrent infections by pyogenic bacteria
**Partial oculocutaneous albinism
Infiltration of organs with nonneoplastic lymphocytes
Neutrophils, macrophages and lymphocytes have giant
lysosomes
**Mutations in gene encoding protein LYST --> de-
fective phagosome-lysosome fusion in neutrophils and
macrophages
Defective melanosome formation in melanocytes, caus-
ing albinism

94. Defects in TLR **TLR3 mutations: herpes simplex encephalitis

Pathways Mutations in MyD88and IRAK-4: severe invasive bacterial
infections early in life
**UNC93B: herpes simplex encephalits

95. NEMO defect Point mutations in NF-kB essential modulator

X-linked recessive condition called anhidrotic ectodermal
dysplasia with immunodeficiency (EDA-ID) - no sweat
glands**
Abnormal differentiation of ectoderm-derived structures

96. Severe Com- **Impaired T cell development with or without defects in

bined Immunod- B cell maturation/NK activation
eficiency (SCID) Severe life-threatening infections
Tx: bone marrow transplant
Peumocystis jiroveci, disseminated varicella, gastrointeti-
nal infections with rotavirus, CMV, Cryposporidium and
Giardia
Infections by live attenuated vaccines (chicken pox,
measles, mumps, rubella, rotavirus)
Skin rash due to graft-versus-host reaction

97. TREC assay

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Newborn SCID screening
Indicator of thymic output of T cells
___ absence = No naive T cell development
Dried blood spot sample

98. DiGeorge Syn- 22q11 deletion

drome **Failure to develop third and fourth pharyngeal pouches
--> no thymus, parathyroids
Deficient T cell maturation
Hypocalcemia
Abnormal development of the great vessels
Facial deformities
Peripheral T cells: absent or greatly reduced, and poor
functioning
Susceptibility to viral, fungal and mycobacterial infections
Tx: fetal thymic transplantation or bone marrow transplan-
tation

99. Adenosine Most common cause of autosomal recessive SCID

Deaminase Mutation in enzyme that functions in salvage pathway of
(ADA) Deficiency purine synthesis
Accumulation of toxic products that inhibit DNA synthesis
Lymphocyte numbers are normal at birth, fall precipitous-
ly during first year of life

100. X linked SCID Mutations in the gene encoding the common gamma
chain: shared by receptors for cytokines IL-2, IL-4, IL-7,
IL-9 and IL-15
Impaired maturation of T and NK cells
B cell number normal but humoral immunodeficiency
Heterozygous females: phenotypically normal

101. Absence of V(D)J Failure to express pre-TCR and pre-BCR

Recombination Block in T and B cell development
Mutations in RAG1/RAG2 genes (cleavage), or ARTEMIS
gene (opening of hairpins)
Autosomal recessive
**Omenn syndrome: hypomorphic mutations, significant
autoimmune and allergic manifestations (not complete
loss of function)
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102. X-Linked Agam- Mutations in BTK gene (tyrosine kinase)

maglobulinemia Failure of B cells to mature beyond the pre-B cell stage in
the bone marrow
Absence of antibodies (gamma globulins) in the blood
Absent B cells in peripheral blood
No germinal centers in lymph nodes
T cells normal
Recurrent bacterial and enteroviral infections after 6
months
Treated by immunoglobulin replacement: passive immu-
nity

103. Selective IgA De- Most common primary immunodeficiency in North Amer-
ficiency ica and Europe
Usually sporadic
Asymptomatic patients
May have increased incidence of respiratory and gas-
trointestinal infections
Anaphylaxis to IgA-containing products
Associated autoimmune disorders

104. Common Vari- Very low serum IgG levels, decreased IgM and/or IgA
able Immunode- Poor antibody response to vaccines
ficiency (CVID) Increased incidence of malignant tumors (lymphomas)
and autoimmune diseases
Increased incidence of infections (typically H. influenzae
and S. pneumoniae)
Most cases are sporadic
Decreased plasma cells

105. X-linked Hy- Mutations in gene encoding CD40L (CD154) on helper T

per-IgM Syn- cell
drome **Defective switching of B cells to IgG and IgA isotypes
Major isotype in blood is IgM
Defects in cell-mediated immunity (due to defect in T-cell
dependent activation of macrophages and dendritic cells)
Failure to make germinal centers
Autosomal recessive form: defects in CD40, AID or UNG

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106. Wiskott-Aldrich X-linked
Syndrome Mutation in WASp gene - involved in actin polymerization,
cytoskeletal rearrangement
No recognition of cytoskeleton by leukocytes and
platelets = defective antigen presentation
Eczema, thrombocytopenia, susceptibly to bacterial in-
fections
Increased IgE, IgA
Decreased to normal IgG, IgM

107. Hyper-IgE Syn- Job syndrome

dromes (HIES) Eczema, eosinophilia, recurrent pulmonary infections,
staphylococcal and fungal skin abscesses**
Increased IgE antibodies, broad nasal bridge
May not lose primary teeth
Scoliosis, increased risk of fractures
Autosomal dominant form: dominant negative mutation
in STAT3 --> impaired neutrophil recruitment to sites of
infection

108. X-Linked **Inability to eliminate Epstein-Barr virus (EBV)

Lymphoprolifera- SLAM (signaling lymphocyte activation molecule)-associ-
tive Syndrome ate protein (SAP) mutation
(XLP) X-linked inhibitor of apoptosis (XIAP) mutation
Attenuated NK and T cell activation
Produce abnormally large numbers of T cells, B cells, and
macrophages
Fulminant infectious mononucleosis and B cell lymphoma
Increased susceptibility to viral infections
Hepatomegaly

109. Ataxia-Telangiec- Autosomal recessive

tasia Defect in ATM - abnormalities in dsDNA repair
Leads to cell cycle arrest
Abnormal gait, vascular malformations, neurological
deficits, increased incidenec of tumors, immunodeficien-
cy
Respiratory infections, autoimmunity, cancers
IgA deficiency

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110. HIV structure Diploid RNA genome
pol - reverse transcriptase, protease, integrase
gp41, gp120 - envelope proteins
Reverse transcriptase synthesizes dsDNA from RNA to
be integrated into host genome
Interacts with T cell through chemokine receptors
B17, B24 - proteins that are used in diagnosis

111. HIV infection pro- 1. Infection through mucosal tissues

gression 2. Virus is picked up by T cells and dendritic cells
3. Cells migrate to lymphoid organs
4. Replication of virus takes place in organs
5. Virus spills out of cells during replication --> viremia
6. Viremia induces immune response - antibodies, cy-
totoxic T cells
7. Immune response can control infection for long period
of time - clinical latency
8. When viremia reaches critical point and low CD4+ T
cells --> opportunistic infections --> AIDS

112. acute HIV phase Viremia

Flu-like symptoms
Develops in 50-70% of infected adults, 3-6 weeks after
infection
Spike of plasma virus
Modest reduction in CD4+ T cell counts, that return to
normal
Enter clinical latency

113. Chronic Phase of May last for many years

Clinical Latency Virus is contained in lymphoid tissues
Asymptomatic
Concentration of plasma virus stabilizes
Immune responses to other infections stimulate HIV pro-
duction "subversion from within"

114. Subversion from Immune response (cytokines) triggers virus in lymphoid

within tissue to multiply until it reaches level that there is critical
decrease in number of CD4+ cells and viremia

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Virus survives in CD4+ cells and kills them to spread to
other cells

115. AIDS Blood CD4+ T cell count drops **below 200 cells/mm3
Opportunistic infections
Neoplasms
Cachexia (HIV wasting syndrome)
Kidney failure
CNS degeneration (AIDS encephalopathy)

116. HIV infections Once CD4+ T cell count drops below 200
Protozoa (Toxoplasma , Cryptosporidium)
Bacteria (Mycobacterium avium , Nocardia , Salmonella)
Fungi (Candida , Cryptococcus neoformans , Coccid-
ioides immitis , Histoplasma capsulatum , Pneumocystis)
Viruses (cytomegalovirus, herpes simplex, varicel-
la-zoster)

117. HIV manifesta- Tumors:

tions - Lymphomas (including EBV-associated B cell lym-
phomas)
- Kaposi sarcoma
- Cervical carcinoma
Encephalopathy
Wasting syndrome

118. type A drug reac- Predictable

tion Dose dependent
Related to the pharmacology of drug
80-90% of adverse drug reactions
Example: albuterol causing tremor

119. type B drug reac- Unpredictable, unrelated to known pharmacologic action

tion 1. Intolerance: pt develops a known side effect at a lower
dose of med than expected (sleepiness due to cetirizine).
2. Idiosyncratic: pharmacogenomic effect:
pt has a reaction based on the way their body processes
a drug - secondary to genetics (aspirin and ).
3.Immune mechanisms/Allergy/Hypersensivity

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120. type I hypersen- Mediated by IgE, histamine
sitivity Allergic reactions
Allergen-specific IgE binds to Fce receptors on mast cells
after first exposure
Second exposure: allergens bind to IgE --> cross linkings
--> mast cell degranulation --> pro-inflammatory media-
tors released --> allergic reaction
Mast cells release histamine, leukotrienes,
prostaglandins, cytokines

121. T cell dependent Protein antigens

Antigen alone does not fully activate the B cell
Need helper T cell
More isotype switching and affinity maturation
Long lived plasma cells = strong, effective antibody re-
sponse
Stronger vaccines
Follicular B cells

122. T cell indepen- Non-protein antigen - polysaccharides, lipids

dent Weakly immunogenic
B cell reaction that exhibits little to no isotype switching or
affinity maturation
Mainly IgM
Short-lived plasma cells
Simple antibody responses
Marginal zone B cells, B-1 cells

123. Th1 cell Targets macrophages

Host defense - intracellular pathogens
Autoimmunity, chronic inflammation
Secretes IFN-y, IL-2 --> IL-15, NK activation ligands
Activates macrophages and CTL
Differentiation induced by IFN-y, IL-12
Inhibited by IL-4, IL-10

124. Th2 cell Target eosinophils

Host defense - parasites
Allergy
Secretes IL-4, IL-5, IL-13
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Recruits eosinophils for parasite defense and promotes
IgE production by B cells
Differentiation induced by IL-2, IL-4
Inhibited by IFN-gamma

125. neonatal Fc re- Transports antibodies from mother's circulation to fetus

ceptor (FcRn) Protects IgG from intracellular catabolism
- increases half life
- IgG taken up into endosome at acidic pH
- IgG-_____ complex to recycling endosome and re-
leased at neutral pH --> back into circulation

126. DAF Helps prevent complement activation on self cells

Displaces Bb binding to C3b
Prevents formation of C3 convertase

127. C1INH Helps prevent complement activation on self cells

Displaces serine protease on C1
Disrupts enzymatic activity `

128. Fce receptor High affinity

Mast cell and basophil activation
IgE + eosinophil activation + IL-5 --> helminth death

129. FcyIII receptor Low affinity

NK cells
Binds to IgG in antibody-dependent cellular cytotoxicity

130. complement sys- 1. Immune cell recruitment - C3a, C5a gradient

tem functions 2. Phagocytosis/opsonization - coating with C3b
3. Cell lysis - formation of MAC
- only effective against gram-negative bacteria (Neisse-
ria)

131. Factor I Cleaves C3b into inactive fragments

Cofactors: MCP, Factor H
No C5 convertase formation or C3bBb formation

132. mucosal immuni- Dimorphic IgA binds to poly-Ig receptors --> endocytosed
ty into vesicle --> transported to lumen
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IgA released by protease
No degradation in gut due to residual poly-Ig component
Target bacteria

133. microbe evasion 1. Antigenic variation - mutations (ex. HIV)

2. Inhibition of complement
3. Blocking of hyaluronic acid capsule - resist opsoniza-
tion and phagocytosis, conceal surface antigens

134. attenuated vac- Treated to abolish infectivity and pathogenicity while re-
cines taining antigenicity
Strong, long-lasting
Risk for immunocompromised
Pathogen isolated --> cultured --> infect monkey cells -->
acquire mutations --> unable to grow in human cells
ex. measles, mumps, varicella

135. subunit vaccines Contain portions of microorganisms

Safe
Required multiple vaccinations
ex. HPV

136. inactivated vac- Organisms have been killed and are unable to produce
cines proteins or replicate
Includes toxins
Safe
Shorter duration of immunity - requires boosters
ex. influenza, Hep A, DTaP

137. conjugate vac- Target encapsulated bacteria (polysaccharides)

cines Usually elicit IgM response --> T cell dependent
Organisms are not immunogenic on own
Add protein --> illicit T cell response
Sage
ex. against Neisseria meningitidis

138. DAF deficiency Causes complement-mediated lysis of RBCs

Paroxysmal nocturnal hemoglobinuria

139.
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acquired an- Caused by underlying disease
gioedema No family history
No urticaria
Age of onset: > 50 years
Does not respond to epinephrine

140. deficient hu- More susceptible to encapsulated bacteria

moral immunity

141. deficient cell me- More susceptible to infection by viruses and intracellular
diated immunity microbes

142. passive immuni- Use of pre-formed antibodies

ty Rapid onset
Short duration
Host immune system not involved in producing antibody
Ex. IgA in breast mild, maternal IgG crossing placenta

143. active immunity Develops as a result of natural or deliberate exposure to

an antigen
Slow onset
Long-lasting protection (memory)
Ex. natural infection, vaccines, toxoid

144. T cell central tol- Elimination of self-reactive lymphocytes in the primary

erance lymphoid organs
Immature cells that strongly interact with self antigen on
MHC --> signal trigger apoptosis (negative selection)
Some T cells with high avidity for self peptides/MHC
differentiate into Treg to downregulate responses to self
antigens in periphery

145. T cell peripheral 1. Anergy - signal blocking vis no constimulation, engage-

tolerance ment of inhibitory receptors
2. Suppression - induced by Treg cells
- Express high affinity IL-2 receptor and FOXP3 transcrip-
tion factor
3. Deletion - elimination of self reactive cells
- intrinsic signals
- death receptors (Fas)
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146. IPEX Autoimmune disease

Disorder or absence of Treg cells
Often caused by FOXP3 mutation
X linked recessive
Characterized by enteropathy, endocrinopathy, nail dys-
trophy, dermatitis

147. B cell central tol- 1. Receptor editing - create new light chains until no
erance longer specific for self-antigen
2. Deletion - failed receptor editing --> apoptosis
3. Anergy - reduce Ig receptor expression

148. B cell peripheral Mature cells

tolerance Recognize antigen but no T cell help
Somatic hypermutation --> self reactive B cells --> die
from "neglect" due to recognizing wrong antigen
Antibody feedback - find to receptors - inhibitory signals
T independent antigens - no innate stimulation - anergy,
apoptosis

149. aspiring exacer- Counterbalance system that works against leukotrienes

bated respiratory which causes allergy clinical symptoms
disease (AERD) Prostaglandin E3 - binds EP receptors on mast cells and
eosinophils to stabilize and inhibit/balance downstream
clinical effects of leukotrienes
Low COX2 in system
Aspirin inhibits COX1/2 - no stabilization
**Nasal polyps + asthma + sinus disease
Tx: desensitization

150. T cell immunode- Not highly susceptible to bacterial infections

ficiency Susceptible to neo-antigens (cancer), self-antigens (au-
toimmunity, and microbial antigens (viruses, intracellular
organisms)

151. IL-2 Secreted by all T cells

Stimulates growth of helper, cytotoxic, and regulatory T
cells
Stimulates growth of NK cells
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152. IL-4 Induces differentiation of T cells into Th2 cells

Promotes growth of B cells
Enhances class switching to IgE, IgG

153. TNF-a Secreted by macrophages

Activates endothelium
Causes WBC recruitment, vascular leak
Causes cachexia in malignancy
Maintains granulomas in TB
Can mediate sepsis

154. IL-12 Secreted by macrophages

Induces differentiated of T cells into Th1 cells
Activates NK cells

155. IL-1 Secreted by macrophages

Causes fever, acute inflammation
Activates endothelium to express adhesion molecules
Induces chemokine secretion to recruit WBC

156. IL-6 Secreted by macrophages

Causes fever and stimulates production of acute-phase
proteins

157. IL-3 Secreted by all T cells

Supports growth and differentiation of bone marrow stem
cells
Functions like GM-CSF

158. IFN-y Secreted by NK cells and T cells in response to antigen

or IL-12 from macrophages
Stimulates macrophages to kill phagocytosed pathogens
Inhibits differentiation of Th2 cells
Activated NK cells to kill virus-infected cells
Increases MHC expression and antigen presentation by
all cells

159. IL-5 From Th2 cells

Promotes growth and differentiation of B cells
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Enhances class switching of IgA
Stimulates growth and differentiation of eosinophils

160. IL-10 From Th2 and Treg cells

Attenuates inflammatory response
Decreases expression of MHC class II and Th1 cytokines
Inhibits activated macrophages and dendritic cells

161. IL-8 Secreted by macrophages

Major chemotactic factor for neutrophils to clear infections

162. pathogen asso- Ligand in innate immunity

ciated molecular Bind to pattern recognition receptors (PRRs)
pattern (PAMP) RNA, DNA, polysaccharides, flaggelin

163. damage associ- Ligand in innate immunity

ated molecular Bind to pattern recognition receptors (PRRs)
pattern (DAMP) Things that come from host that indicate damage
Uric acid, cholesterol crystals, DNA, chaperone proteins

164. somatic hyper- Randomly introduces single nucleotides (point mutations)

mutation further diversifying V-domain
Generate Ig diversity and higher antigen specificity
After B cell has matured and migrated to secondary lym-
phoid organs
Ultimately allows affinity maturation

165. class switching Changing constant region of antibody

Variable region unchanged
Irreversible
Confers distinct antibody effector functions
irreversible DNA recombination, occurs after antigen
stimulation
When switch regions are brought together, coding se-
quences are cut out of genome

166. type II hypersen- Mediated by IgM, IgG from self-reactive B cells

sitivity Destruction of healthy cells
Tissue specific
Antigen bound by IgG on fixed surface
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Cytotoxic:
- activation of complement
- MAC
- opsonization
- ADCC
Non-cytotoxic:
- antibody interrupts normal function

167. type III hypersen- Mediated by immune complexes

sitivity Deposit under endothelial cells in blood vessel walls -->
inflammation and tissue damage
Activate platelets - thrombi, local ischemia
Complexes form at *slight antigen excess or equal anti-
gen
Often occurs in kidneys, joints, small blood vessels
ex. lupus, serum sickness

168. lupus (SLE) Type III hypersensitivity reaction

DNA autoantigen from lysed cell
Antibodies binding to small antigens --> less immuno-
genic
Deposit on basement membrane --> complement system
activated in large amounts
Anaphylatoxins - increase vascular permeability
Chemokines - recruit neutrophils - vasculitis

169. serum sickness Type III hypersensitivity reaction

Receive foreign serum which elicits antibody response
Venom antigen --> create antivenom antibodies
Bit again --> antibodies formed first time bind to antiven-
om serum antibodies --> create complex
Vasculitis, tissue damage

170. type IVa hyper- Mediated by Th1 cells --> INF-y, TNF-a
sensitivity Antigen presented by APC for direct T cell stimulation
Activate macrophages --> TNF, IL-1, IL-6 released
Local swelling, contact dermatitis
Typically presents after about a week of antibiotic use
Th1 cells arise from CD38 binding to B7 on APC
ex. TB test, nickel allergy
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171. type IVb hyper- Mediated by Th2 cells --> IL-5, IL-4, IL-13
sensitivity Antigens presented on MHC I molecule
Influx of eosinophils --> cytokines, inflammatory media-
tors
Eosinophils cause IgG secretion
ex. chronic asthma, chronic allergic rhinitis, maculopapu-
lar exanthema

172. type IVc hyper- Mediated by cytotoxic T cells --> perforin, granzymes
sensitivity Cell associated antigen or direct T cell stimulation
Directly kill cells through apoptosis
Contact dermatitis, T1DM, exfoliative dermatites

173. type IVd hyper- Neutrophils recruited by CXCL8, GM-CSF from T cells
sensitivity IL-17 released from Th17 cells --> also recruit neutrophils
ex AGEP - acute generalized exanthematous pustulosis
(neutrophils enter lesion via GM-CSF secretion)

174. DRESS syn- Drug reaction with eosinophilia and systematic symptoms
drome Type IVb hypersensitivity reaction
Drugs that predispose are highly metabolized
No mast cell involvement
Release of interleukins --> eosinophilia --> release of
mediators --> damage
Symptoms begin within weeks of starting drug
Begins as rash, fever
No mucosal involvement
Common drugs - anticonvulsants, dapsone, sulfon-
amides, allopurinol

175. MHC Polygenic

Polymorphic
Expression of genes is co-dominant (no allelic exclusion)

176. signal 1 antigen

177. signal 2 co-stimulation

178. signal 3 production of cytokines

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179. Th17 Target neutrophils

Host defense - extracellular pathogens
Autoimmunity
Secrete IL-17, IL-22

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