Term
|
Definition
immediate
involves IgE, mast cells and allergen
isotype switch, IL-4&IL-13 from Th2 cells |
|
|
Term
|
Definition
receptor on mast cells that binds the IgE
involved in a type I hypersensitivity reaction
highest affinity of Fc/Ab binding |
|
|
Term
| mast cell granule contents |
|
Definition
Histamine/heparin
Enzymes for ECM remodeling
TNF-alpha |
|
|
Term
| mast cell de novo synthesis products |
|
Definition
TNF-alpha
IL-4/IL-13 -> more IgE
IL-3/5/GM-CSF -> promote WBC production (eosinophil esp.)
CCL3 -> attract WBCs
Leukotrienes -> SM contraction, increase vascular perm, mucus secrete
PAF -> attract WBC, activate WBCs |
|
|
Term
|
Definition
| favors activation of IL-4 and CD4 T cells |
|
|
Term
|
Definition
found in granules of eosinophils
promotes degranulation of mast cells |
|
|
Term
|
Definition
| caused by cytokines and eosinophil products, leads to chronic inflammation, causes lung damage, less breathing capacity, worse allergic response |
|
|
Term
|
Definition
small # in circulation, but Th2 response increases
most found in CT of gut, resp, and GI epithelium
degranulation induced by IL-3/5
too many can damage heart
signaled in reponse to fungal infection and allergies |
|
|
Term
|
Definition
similar function to eosinophils
small # in circulation
respond to same cytokines as eosinophils |
|
|
Term
systemic anaphylaxis
(allergens, entry, response) |
|
Definition
drugs, venoms, food, serum
enter: IV or oral absorption
response: edema, increased vascular perm, laryngeal edema, circulatory collapse, death
tx: epinephrine |
|
|
Term
acute urticarial (wheal-&-flare)
(allergens, entry, response) |
|
Definition
animal hair, insect bit, testing
entry: skin or systemic
response: local increase blood flow, increase vascular perm locally, edema |
|
|
Term
seasonal rhinoconjunctivitis (hay fever)
(allergens, entry, response) |
|
Definition
pollens, dust-mite feces
entry: contact with conjunctiva and nasal mucosa
response: edema of conjunctiva and nasal mucosa, sneezing |
|
|
Term
asthma
(allergens, entry, response) |
|
Definition
danders, pollen, dust-mite feces
entry: inhalation then contact with mucosa of lower airways
response: bronchial constrict, increased mucus product, airway inflame |
|
|
Term
food allergy
(allergens, entry, response) |
|
Definition
peanuts, tree nuts, shellfish, fish, milk, eggs, soy, wheat
entry: oral
response: vomit, diarrhea, pruritis, urticaria (hives), anaphylaxis |
|
|
Term
|
Definition
APC deliver allergen to lymph node
activation of adapative response
high delivery rate of allergens
effector cells migrate and cause damage
macrophages respond to damage
more allergen (new) presentation
more effectors activated
cycle |
|
|
Term
| atopic allergy characteristics |
|
Definition
| high serum IgE, high abs eosinophils, dry itchy skin, other type I reactions |
|
|
Term
|
Definition
treats anaphylactic reactions
supports blood pressure and cardiac function
relaxes smooth muscle of resp. system |
|
|
Term
|
Definition
prevents degranulation by stabilizing membranes
used as prophylactic by asthmatics |
|
|
Term
|
Definition
inhibit phosphodiesterase
maintain cAMP levels
bronchodilator, heart function stimulator |
|
|
Term
|
Definition
antagonist of histamine receptors
diphenhydramine H1
cimetidine H2
fexofenadine (allegra) H1-long acting |
|
|
Term
|
Definition
inhibit cytokine gene transcription
prevents Th2 activation and response
used for severe asthma and atopic dermatitis |
|
|
Term
|
Definition
anti-IgE antibodies
binds Fc region of IgE and prevents loading of mast cells with IgE |
|
|
Term
|
Definition
immediate
IgG or IgM-mediated cytotoxicity: ADCC, complement, or phagocytosis |
|
|
Term
|
Definition
Abs against basement membrane in kidney
type II hypersensitivity reaction
renal failure results
tx: plasmapheresis and steroids/cytotoxics |
|
|
Term
|
Definition
ABO incompatibility or Rh incompatibility
Type II hypersensitivity |
|
|
Term
|
Definition
direct or indirect methods
test for maternal IgG to Rh factor |
|
|
Term
| Type III hypersensitivity |
|
Definition
immune complex disease
involves IgG and solube antigens
presenting pathology depends on site of complex deposition |
|
|
Term
|
Definition
reaction at injection site
involves pre-existing Abs at injection site
complex deposits in skin and complement is activated
local inflammation and leukocyte invasion
ex: glomerularnephritis
type III hypersensitivity |
|
|
Term
|
Definition
systemic disease that involves production of new antibodies
complexes with antigen and gets stuck in places (i.e. kidney)
Ab->complement->macrophage->inflammation->rheumatoid arthritis in joints |
|
|
Term
|
Definition
intravenous injection of antigen
Ab-Ag complex deposits in blood vessel walls |
|
|
Term
|
Definition
intravenous injection of antigen
Ab-Ag complex deposits in renal glomeruli |
|
|
Term
|
Definition
intravenous injection of antigen
Ab-Ag complex deposits in joint spaces |
|
|
Term
|
Definition
inhaled antigen
Ab-Ag deposits in alveolar/capillary interface
looks a lot like type I reaction (difficulty breathing), but is really due to constant exposure to hay/allergen
IgG mediated |
|
|
Term
|
Definition
type I - epitope, systemic anaphylaxis
type II - hapten, hemolytic anemia
type III - bind soluble protein, lung damage |
|
|
Term
|
Definition
delayed, contact sensitivity, cell-mediated
lipid soluble hapten creation
memory response -> more severe upon re-exposure |
|
|
Term
|
Definition
antigen penetrates skin and binds to self-proteins
complex taken up by Langerhans cells
presentation to Th1 cells
secretion of IFN-gamma and cytokines
keratinocytes, activated, secreted cytokines (IL-1, TNF-alpha, CXCL8, CXCL11, CXCL9)
activation of macrophages -> inflammation |
|
|
Term
| delayed-type hyersensitivity |
|
Definition
antigens: proteins (insect venom, mycobacterial proteins)
response: local skin swell, erythema, induration, cellular infiltrate, dermatitis
mediated: memory Th1 cells
type IV hypersensitivity subtype |
|
|
Term
|
Definition
Ag: haptens (poison ivy, DNFB) or small metalions (nickel, chromate)
response: local epidermal rxn, erythema, cell infiltreate, vesicles, intraepidermal abscesses
type IV subtype |
|
|
Term
| gluten-sensitive enteropathy (Celiac) |
|
Definition
antigen: gliadin
response: villous atrophy in small bowel, malabsorption |
|
|
Term
|
Definition
test for exposure to M tuberculosis
(false + with BCG vaccine)
delayed-type hypersensitivity
swelling from fluid and cell infiltrate |
|
|
Term
|
Definition
chemokine of choice for gut
chemotactic agent for leukocyte attraction |
|
|
Term
|
Definition
responsible for moving IgA across epithelial surfaces
esp. important in gut mucosal immunity |
|
|
Term
|
Definition
longer hinge
increased chance of cleavage
more in small intestine |
|
|
Term
|
Definition
shorter, protected hinge
mainly in colon |
|
|
Term
|
Definition
| portion of polyIg receptor that is cleaved to release IgA dimers into mucosa after transportation across epithelial surface |
|
|
Term
|
Definition
|
|
Term
|
Definition
| high B cell concentration |
|
|
Term
|
Definition
| lots of B cells, secretion of Abs |
|
|
Term
|
Definition
| lymphoid follicles, lots of B cells, Ab secretion |
|
|
Term
|
Definition
specialized epithelial cells
takes up Ags from gut and brings across epithelium to Peyer's
nonspecific transport! |
|
|
Term
|
Definition
| DCs extend processes across epithelial layer in gut to capture Ag from lumen |
|
|
Term
| FcRn-dependent Ag movement |
|
Definition
Abs attached to Fc portion to the epithelial cell
binding of Ag by Ab
complex is endocytosed and transported to basal membrane
exocytosis to underlying tissue |
|
|
Term
| apoptosis-dependent Ag movement |
|
Definition
| apoptosis of gut epithelial cell containing Ags, debris is picked up by DCs |
|
|
Term
| intraepithelial lymphocytes (IELs) |
|
Definition
CD8 cells
critical for rpaid attacking virally infected cells in gut
creates breach in epi layer |
|
|
Term
| goblet cells (immune role) |
|
Definition
active production of definsin like molecules and mucus
controls NF of gut and resp. tract |
|
|
Term
|
Definition
not present in newborn
develops in response to recognition of pathogen in the resp. tract
occurs at the site of ongoing infection
B and T cells migrate in and sometimes for germinal centers |
|
|
Term
| GI mucosa protective measures |
|
Definition
flow of fluid, food, saliva
acidity, enzymes, proteases
antimicrobial defensin secretions |
|
|
Term
| Resp. mucosa protective measures |
|
Definition
flow of fluid and and mucus by cilia
air flow
lysozymes in nasal secretions
antimicrobial defensin secretions |
|
|
Term
| UG mucosa protective measures |
|
Definition
flow of fluid, urine, mucus, sperm
acidity of vaginal secretions, spermine and zinc in semen
antimicrobial defensin secretions |
|
|
Term
|
Definition
mediated by Th2 cells
involves IL-13, IL-4, B cell IgE production, IL-3, IL-3 and IL-9 |
|
|
Term
|
Definition
produced by active Th2 cell
induces epithelial cell repair and mucus secretion
increases turnover of cells
increases shedding of parasitized cells
mucus prevents adherence and accelerates parasite loss |
|
|
Term
|
Definition
produced by active Th2 cell
works with IL-13
activates M2 macrophages
enhances tissue remodeling and repair |
|
|
Term
|
Definition
activated by IL-4/IL-13
products (i.e. arginase) increase vascular smooth muscle contraction |
|
|
Term
|
Definition
produced by active Th2 cell
recruits and activates eosinophils
mediate ADCC using parasite specific IgE |
|
|
Term
|
Definition
produced by active Th2 cell
recruits mast cells that are armed with IgE
recruits inflammatory cells and helps remodel mucosa |
|
|
Term
|
Definition
| involves Peyer's patches, isolated lymphoid follicles, goblet cells and IgA-secreting plasma cells |
|
|
Term
| costimulation for naïve T cell activation |
|
Definition
B7-CD28 by B cell
B7 expression increased by activation of TLR within B cell |
|
|
Term
|
Definition
lack of infection -> lack of B7 -> no co-stimulation
promoted by: IL-10, retinoic acid, CCR9, Treg generation, TGF-beta |
|
|
Term
|
Definition
| inject vaccine to induce an adaptive immune response |
|
|
Term
|
Definition
| inject Abs to attack pathogen or neutralize toxin |
|
|
Term
| effective vaccine features |
|
Definition
safe
protective
sustained protection
neutralizing Ab or protective T cells
practical considerations |
|
|
Term
| dead, inactivated vaccines |
|
Definition
virus particles treated with formalin or heat
causes no path, but induces immune response via inflammation
ex: rabies, influenza, Salk polio |
|
|
Term
| live, attenuated vaccines |
|
Definition
bacteria like BCG (alternate species)
virus - reduced ability to replicate in human (Ex: measles, mumps, Sabin polio)
weakened IMS has trouble with |
|
|
Term
|
Definition
live, attenuated
cripple virus can only barely survive and replication
generates a lot of immunity with little path |
|
|
Term
|
Definition
generate Abs to neutralize a toxin
toxin is treated with formalin = toxoid
Ex: C. tetani, C. diphtheria, B. pertussis |
|
|
Term
|
Definition
purpose is to bind toxin before it does harm
or neutralize virus before infection |
|
|
Term
|
Definition
| generated by live, attenuated virus vaccines |
|
|
Term
|
Definition
additive substances in vaccines
questionable whether they do or should influence immune response |
|
|
Term
| inactivated influenza vaccines |
|
Definition
1) made in chicken eggs - allergy concern, multi-valant, 3-4 serotypes
2) flublok made in insect cells - 3 reomb HA serotypes |
|
|
Term
| live, attenuated influenza vaccines |
|
Definition
flu-mist
replication in nasal cavity -> immune repsonse |
|
|
Term
| side effects of influenza vaccine |
|
Definition
redness at inj site
fever, headache, runny nose
NOT THE FLU |
|
|
Term
| key pathogens w/o vaccines |
|
Definition
HIV - hides well, rapid mutate
Malaria - hides well, can mutate
HepC - hides well
Tuberculosis - hides well |
|
|
Term
| central tolerance breakdowns |
|
Definition
poor elimination of autoreactive B cells
failure of + or - selection of T cells in thymus |
|
|
Term
| peripheral tolerance breakdowns |
|
Definition
1) autoreactive B cell from germinal center
2) lack of co-stim doesn't induce anergy
3) Tregs formation fails
4) sequestered Ag exposure |
|
|
Term
|
Definition
transcription factor that regulates expression of self-proteins in thymus
important for negative selection |
|
|
Term
| Autoimmune polyendocrine syndrome type 1 (APECED) |
|
Definition
associated with mutation sin AIRE
endocrine problems
inflammation induced by auto-reactive T cells
difficulty eliminating yeast infections
lots of skin conditions |
|
|
Term
|
Definition
| transcription factor necessary for development of Tregs |
|
|
Term
| Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) |
|
Definition
associated with mutation of FoxP3
affects pancreas, thyroid and skin
see recurrent infections
tx: BMT |
|
|
Term
|
Definition
assoc. w/ S. pyogenes infection
Abs made for inf cross-react with self-antigens
bind heart tissue and activate complement response
acute inflammation causes tissue destruction and phagocytosis
Ab bind overwhelms normal protective mechanism of complement system
innate immune response causes damage and disease manifestations |
|
|
Term
|
Definition
| less hygienic environments and increase pathogen burden -> protection from allergy/asthma and autoimmunity |
|
|
Term
|
Definition
genetics: DR3/DQ2 or DR4/DQ8 increase, DQ6 decrease risk
Islet cell Abs (85% pts), anti-insulin, anti-GAD or anti-IA-2
damaged is caused by CTLs |
|
|
Term
|
Definition
immune complex mediated disease
autoimmune response against self proteins
rheumatoid factor in some pts
Ab-Ag complex -> complement, macrophages, inflammation, cytokines
cause is unknown
Tx: anti-TNF-alpha |
|
|
Term
|
Definition
| IgM Abs that bind to heavy chain of IgG abs |
|
|
Term
| Systemic lupus erythematosus (SLE) |
|
Definition
systemic chronic autoimmune disease
butterfly rash on face
early on a response to normally sequestered ag -> abs created -> ab-ag complex -> deposition -> inflammation -> tissue damage -> more sequestered ag release -> more abs |
|
|
Term
|
Definition
antigenic site hidden in protein or virion b/c it is present on the surface subunits that become buried
antigenically active only after dissociation of protein aggregates and virions |
|
|
Term
|
Definition
autoimmune disease
HLA-B27 involvement
chronic inflammation |
|
|
Term
|
Definition
auto-Ab gasint ACh receptor (internalization if bound)
loss of receptors -> progressive muscle weakness
first seen in facial muscles (droopy eyelids and double vision)
tx: pyridostigmine (inhibits cholinesterase) |
|
|
Term
|
Definition
autoimmune disease
inflammatory response within BBB
CD4 T cells mediate with integrin and VCAM of endothelial cells
microglial cells present Ag to T cells
Th1 and Th17 cells are activated
results in demyelination of neurons! |
|
|
Term
|
Definition
acute inflammatory demyelinating polyneuropathy
immune reaction against peripheral nerves
assoc. w/ viral or C. jejuni infect
ascending peripheral weakness, paralysis
due to molecular mimcry, IgG mediated
Tx: plasmapharesis, IVIG |
|
|
Term
|
Definition
T cell activation against commensal gut microbiome
chronic inflammation of gut mucosa
Th1 and Th17 mediated
defective release of defensins by Paneth cells (poor NF control)
IL-23 receptor influences cytokine response
Treg activation is reduced |
|
|
Term
|
Definition
hyperthyroidism
anti-TSH-receptor Abs
stimulate production of thyroid hormone via const activation of receptor
can affect fetus if IgG antibody, transient though, tx: plasmapharesis
tx: ablate thyroid gland to stop production of hormones |
|
|
Term
|
Definition
hypothyroidism lymphocytes enter thyroid gland (try to turn into lymph node/follicle)
destruction of normal thyroid tissue
production of Abs against thyroid ags
tx: thyroid hormone replacement |
|
|
Term
|
Definition
trauma to eye results in release of sequester Ags
released Ags are cared to node and activate T cells
effector T cell migrate and attack both eyes |
|
|
Term
| Hemolytic disease of Newborn |
|
Definition
ABO incompatibility
maternal Abs cross placenta and attack fetal RBCs
frequently O mom with A or B baby (IgG mediated, milder)
A or B mom with opposite baby (IgM mediated, more serious) |
|
|
Term
|
Definition
Rh- mom with Rh+ child
first exposure (pregnancy) -> ab production
subsequent babies, Abs cross placenta and destroys fetal RBCs, more serious than HDN
tx: mom with rhogam to prevent Ab production in response to fetal blood |
|
|
Term
|
Definition
vary between members of same species
highly polymorphic set of genes
allo-reactivity
ex: HLA/MHC |
|
|
Term
| Hyperacute allograft rejection |
|
Definition
minutes to hours
pre-formed Ab to the graft already in recipient (i.e. HLA or ABO incompatibility)
rejection cannot be stopped |
|
|
Term
| Acute allograft rejection |
|
Definition
days to week
cell-mediated immunity in recipient
tx: immunosuppressive drugs |
|
|
Term
| Chronic allograft rejection |
|
Definition
months to years
accumulation of multiple acute responses
cell-mediated and Ab-mediated immunity in recipient
like never-ending wound healing, destroys the organ
graft cannot be saved |
|
|
Term
| Direct allograft rejection |
|
Definition
DC from donor enters recipient lymph node
presentation of Ag to recipient T cell with non-self MHC -> activation |
|
|
Term
| Indirect allograft rejection |
|
Definition
DC from donor dies
MHC taken up by recipient
presentation as non-self peptide in self-MHC --> activation |
|
|
Term
| azathioprine, cyclophosphamide, mycophenolate |
|
Definition
immunosuppressive drugs to prevent graft rejection
inhibit proliferation of lymphocytes by interfering with DNA synthesis |
|
|
Term
| cyclosporin A, tacrolimus |
|
Definition
immunosuppressive drugs used to prevent rejection
inhibit calcineurin-dependent activation of NFAT, block IL-2 production and proliferation by T cells |
|
|
Term
|
Definition
immunosuppressive drug used to prevent rejection
inhibits proliferation of effector T cells by blocking rictor-dependent mTOR activation |
|
|
Term
|
Definition
immunosuppressive drug used to prevent rejection
blocks lymphocyte trafficking out of lymphoid tissue by interfering with signals by sphinosine-1-phosphate receptor |
|
|
Term
| T cell changes by immunosuppressive drugs |
|
Definition
reduced cytokine expression
reduced proliferation
reduced calcium-dependent exocytosis of granule-assoc. serine esterase
inhibition of Ag-driven apoptosis |
|
|
Term
| B cell changes by immunosuppressive drugs |
|
Definition
inhibition of proliferation 2* to cytokine decrease
inhibition of proliferation following ligation of surface Ig
induction of apoptosis following activation |
|
|
Term
| granulocyte changes by immunosuppressive drugs |
|
Definition
| reduced calcium-dependent exocytosis of granule-associated serine esterase |
|
|
Term
| Graft vs. Host Disease (GVHD) |
|
Definition
T cell in graft of BMT attacks the recipient
but removing T cells results in ineffective transplant |
|
|
Term
|
Definition
isolate hematopoietic stem cells from pt prior to tx
done via stem cell mobilization or bone marrow tap
give back after tx |
|
|
Term
|
Definition
| specific Ag that are expressed on tumor cell that when in dish, induce immune response |
|
|
Term
|
Definition
low immunogenicity
tumor treated as self-ag (no co-stim)
antigenic variation
tumor-induced immune suppression
tumor-induced privileged site |
|
|
Term
| immunotherapies for cancer |
|
Definition
stimulate anti-tumor response
decrease suppressive mechanisms of tumors
Coley's toxin
cytokine, ab, adoptie, vaccine |
|
|
Term
|
Definition
infection of cancer pts with bacteria -> less growth of sarcoma or regression
created vaccine with killed bacteria -> activate innate rewsponse --> attack tumor |
|
|
Term
| Ab immunotherapy for cancer |
|
Definition
ADCC - macrophages kill tumor cell
complement or NK cell mediated killing
toxins - activated inside tumor cells
radioneuclides - kills surrounding cells |
|
|
Term
| Cytokine immunotherapty for cancer |
|
Definition
TNF-a - vasculature leakage = bad
IL-2 - severe toxicity
IFN-a - kidney cancer 5-10% response, leukemias and melanomas |
|
|
Term
| Adoptive transfer immunotherapy for cancer |
|
Definition
after ex vivo manipulation
DCs expanded in vitro from pt blood
pulsed with tumor Ags from pts cancers
given back to pt
significant improvement seen in prostatic cancer pts |
|
|
Term
| Lymphocyte immunotherapy for cancer |
|
Definition
tumor infiltrating lymphocytes isolated from tumor
expanded in vitro and given back
mprovement seen, studies in progress |
|
|
Term
| Vaccine immunotherapy for cancer |
|
Definition
peptides - tumor specifc proteins
mistures - tumor proteins and/or tumor lysates
modified tumor cells - exp. immune stimulating genes
modified virus - target tumor and bring toxic gene along with |
|
|
Term
| X-linked Hyper IgM Syndrome |
|
Definition
CD40L deficiency
no isotype switching, make IgM in response to T-independent Ag
Low PMNs, normal lymphocyte, high monocytes
Infections: strep pyogenes, pneumocystis, and cryptosporidium
Tx: Ig replacement, BMT |
|
|
Term
| Bruton's Disease (X-linked agammaglobulinemia XLA) |
|
Definition
Failure of male to make Abs
Recur Inf: strep pneumoniae, strep pyogenes
BTK is defective (tyrosine kinase) which is important for pre-B cell signaling, arrests B-cell development
Tx: gamma globulin injections for passive immunity |
|
|
Term
| Hyper IgE syndrome (Job's syndrome) |
|
Definition
Present: eczema, staph skin abscesses, AFEBRILE, pneumonia, very high IgE
Auto dom - most cases, has dental/skeletal abnorm, Stat3 mutation, impaired Th17
Auto rec - TYK2 or DOCK8 mutation, impaired signaling, more prone to viral skin inf
Tx: Abx including prophylaxis, skin care |
|
|
Term
|
Definition
most common 1* immunodeficiency
Dx: measure Ig serum levels
25-50% develop severe infections (bacterial or viral, sinusitis, ear infections, bronchitits, pneumonia, GI infections)
Carries increase risk of autoimmune disease
Increased risk for allergies and asthma
Transfusion reactions (IgG-complexes, IgE-anaphylaxis)
Tx: Abx, serum Ig does NOT work |
|
|
Term
| Common Variable Immunodeficiency |
|
Definition
Present: freq. unusual infections, age 20-30 usually, thromybocytopenia, thyroiditis, hemolytic anemia
Inf: S. pneumonia, H. influenza, encap bacteria; sinus, lungs, ear, GI
Impaired response to pneumococcal vaccines
Hypogammaglobulinemia - lower level of all isotypes, deficient in plasma cells and somatic hypermutation
Increased incidence of autoimmune disease
Tx: serum Ig, can have transfusion rxn though |
|
|
Term
|
Definition
most common form of SCID
mutation in gamma-c chain -> loss of function cytokine receptors to (IL2/4/7/9/15/21), failre to interact with JAK3 kinase
B cells dont' respond to IL4 and IL21 (no prolif, isotype switch or germinal centers)
Tx: isolate pt in pathogen free environ, IV gamma globulin, BMT without ablation |
|
|
Term
|
Definition
Defect in embryonic development
Microdeletion of 22q11.2
Dymorphic facial features seen at birth, heart defects, single outflow from heart, difficulty breathing and feeding, seizures
Thymic aplasia - low abs lymphocyte, almost no CD3+, CD19+ and CD16/CD56 cells are normal, low platelet
Tx: thymic transplant |
|
|
Term
|
Definition
Opportunistic infections at early age
High white count due to increased neutrophils
Low lymphocyte count (very low T cells)
Defect in RFX or CIITA genes (req. for MHC-II transcription) |
|
|
Term
|
Definition
Pulmonary and sinus infections (resp. viruses and bacteria)
High levels of IgG
Lymphocytes are severely reduced (esp. CD8 T cells)
Defect in Tap genes, required for MHC-I presentation
Less severe than BLS2 |
|
|
Term
|
Definition
Missense mutation in RAG genes
Early onset of brith red rash
Eosinophilia and low lymphocyte count
No thymic shadow
Rapidly fatal unless tx
Tx: BMT |
|
|
Term
|
Definition
Defect in adenosine deaminase
Autosomal recessive
Key for purine metabolism
Accumulation of nucleotide metabolies in all cells, esp. toxic to T cells
20% of SCID cases
Tx: BMT, gene therapy |
|
|
Term
|
Definition
Defect in purein nucleoside phosphorylase
Involved in purine catabolism
Build up of dGTP is toxic to T cells
4% of SCID cases |
|
|
Term
| Acquired Immunodeficiency Syndrome (AIDS) |
|
Definition
Caused by HIV
Infection of T cell and macrophages
Uses CD4 and chemokine receptors for tropism (CCR5 or CXCR4)
Virus kills CD4 cells
Slowly progressive disease
Tx: anti-virals |
|
|
Term
|
Definition
epinephrine - anaphlaxis
cromolyn sodium
methylxanthines
anti-histamines
corticosteroids |
|
|
Term
Immunosuppressive drugs
(rejection prevention) |
|
Definition
Corticosteroids
Azathioprine, cyclophosphamide, mycophenolate
Cyclosporin A, tacrolimus
Rapamycin
Fingolimod |
|
|
