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78 Cards in this Set

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What can often cause SCID?
1) "pure" defect in T cells
2) defect in gene that affects T and B cells
3) major problem with innate immunity (macrophages)
When a patient has recurrent sinus, lung, intestinal infections, what is the first thing you should test for?
antibody deficiency
What are some major categories of Combined Immunodeficiency?
1) Hemophagocytic Syndrome
2) Mendelian Susceptibility to Mycobacterial Disease (MSMD)
3) Toll-like receptor defects
What causes MSMD?
Defect in interferon gamma and IL-12
Patients who have a tendency to get infections with the intracellular mycobacteria (eg. TB) may have what?
Mendelian Susceptibility to Mycobacterial Disease.
A tendency for someone to get recurring pneumococcal infections may indicate what disease?
Toll-like receptor defect.
If a patient presents with overwhelming multisystem organ failure due to viral infections, what might be the disease?
Macrophage Activation Syndrome (A CID, Hemophagocytic syndrome) where they don't produce granules to destroy cells.
Phagocyte deficiencies present clinically how?
With deep seated tissue infections with bacteria and fungi, anywhere in skin, soft tissue, bone, lungs.
Recurrent meningococcal infections indicate what problem?
Terminal pathway defect in complement system
SCID newborns are particularly susceptible to what infections?
Viral. They have maternal antibodies but they have not T cells to fight intracellular infections.
Common clinical findings of SCID?
Opportunistic infections, chronic thrush, rashes, diarrhea, scarce lymphoid tissue.
What are common lab features of SCID patients?
1) low serum Ab levels
2) no antibody response to immunizations
3) no mitogen
4) important: low/absent T cells, often also low/absent B cells.
What causes "pure" T cell deficiencies?
1) DiGeroge/Velocardiofacial syndrome
2) T cell receptor deficiencies
3) Zap 70 deficiency
Clinical features of DiGeroge/Velocardiofacial syndrome (deletion in Chr 22)?
1) Cardiac malformation
2) Hypoparathyroidism (so low serum Ca)
3) Thymic hypoplasia
The phenotypic, outside appearance of a patient with a deleted Chr. 22 (DiGeorge's)?
malformed ears
fish shaped mouth
down lanting eyes
and of course other typical defects- heart, thymus, parathyroid
What are the 3 main cardiac defects seen in DiGeorge's/VCF syndrome?
1) interrupted aortic arch
2) Truncus arteriosus
3) Tetrology of Fallot
What is common clinical presentation for patients with MSMD?
You see a lot of lesions, often from disseminated mycobacterial infections. Can also get salmonella and different viral infections.
What are common clinical manifestations for Toll-like receptor defects?
pneumococcus infections are common.
Mutations in what downstream signaling molecules can cause TLR defects?
(these are all part of NF-kB signaling pathway):
IRAK-4
MYd88
NEMO
IkBa
What immunodeficiencies lead to inability to make antibodies?
1) Bruton's Aggamaglobulinema (bruton's tyrosine kinase deficiency)
2) Hyper IgM syndrome
3) B cell receptor and signaling deficiency
4) Common variable immunodeficiency (CVID)
5) Selective IgA deficiency
6) IgG subclass deficiency
If you see low/abscent levels of all antibodies, with normal T cells and NK cells, AND recurrent infections (esp. Giardia), what is the problem?
Probably Bruton's tyrosine kinase deficiency
When patients are unable to make Isotype other than IgM (they can't recombine genes), what is the disorder?
Autosomal Recessive Hyper-IgM syndrome
What do you see in Common Variable immunodeficiency?
1) patients present later in life
2) doesn't look like anything is wrong
3) T cells can't activate B cells to make Ab, so lymphocytes build up and you get - lympadenopathy and splenomegaly
4) chronic infections - esp Giardia
What is unique to chronic granulomatous disease (CGD)?
Multifocal osteomyelitis - infections of the bone
What are common phagocyte deficiencies?
1) Leukocyte adhesion deficiency (LADI) - leukocytes can't get firm adhesion to endothelium
2) Chediak-Higashi syndrome --> defect in granules
3) chronic neutropenia - neutrophils can't make elastase, can't mature
4) interferon/IL-12 pathway defects - mycobacterial infections
5) TLR defects - already mentioned
What causes Chronic Granulomatous Disease?
Inability of phagocytes to make hydrogen peroxidase due to defect in NADPH oxidase.
What bacterial infections are often seen in CGD disease (chronic granulomatous disease disease)?
Staph. aureus, serratia marcescens, aspergillus, and mycobacteria. Particularly organism that have catalase to destroy the little H202 left in patients
What can you use to test patients for Chronic granulomatous disease?
Nitroblue tetrozolium or flow cytometry
Defects in early classical complement pathway lead to what?
autoimmune disease due to inability to clear Ab-Ag complexes
Defects in the MBL complement pathway are often seen how?
Infections in infants 6-18 months, when they run out of maternal antibodies. This is often seen with IgG deficiency.
What can cause secondary asplenia?
Sickle cell occluding vessels causing ischemia of spleen.
What are anatomical defects that can lead to secondary immunodeficieincies?
Asplenia, Sickle Cell, COPD in lungs, CSF leaks, thoracic duct damage, protein loss in gut, kidney problems, burns.
What is the number one cause of secondary immunodeficiency in the world?
Malnutrition
What infections do people who are asplenic often get?
Encapsulated organisms - streptococcus pneumoniae, haemophilus influenza, Neisseria meningitidis.
What is diagnostic indicator of an asplenic patient?
Howell-Jolly bodies in the blood --> basophillic nuclear remnants in RBC's
What do you see in bilateral right-sidedness (visceroartrial heterotaxy)
Autosomal recessive with:
Spleen --> hypoplasia or aplasi
Complex heart formation
Malposition of Gi
Neurological abnormalities
What causes abnormal loss of serum proteins in the bowel?
Intestinal Lymphangiectasia --> messed up lymph drainage in GI that leads to loss of IgG
What do you often see in patients who have intestinal lymphangiectasia?
1) Malabsorption, loss of antibodies, intestinal lymphocytes, and overall blood protein
2) leg edema
3) lymphopenia
4) skin anergy - delayed reaction in skin test, proof of decreased T cell function
What can you use to test for CSF Rhinorrhea?
B2 transferrin in the nasal drainage.
If you have JUST a recurrent lung infection, does that indicate Ab deficieincy?
No bc with Ab deficiency you will see sinusitis AND respiratory infection.
What secondary things can cause recurrent chronic pneumonias?
1) aspiration pneumonia
2) neonatal lung diseases
3) heart problems
4) immunodeficieinc y
5) asthma (severe)
foreign body
6) cystic fibrosis
7) ciliary dyskinesis
Clinical manifestations of CF?
lower respiratory infections, bronchiectasis, asthma, and pseudomonas infections
What disease causes defect in cilia?
Kartagener Syndrome
Why does diabetes lead to immunodeficieincy?
In addition to the peripheral neuropathy in feet, yo uget defecting chemotaxis and phagocytosis due to chronic acidosis
What infections are common with diabetic patients
Rhinocerebral mucormycosis, which are molds (Mucro and Rhizopus), which have more iron avaiable to them due to low pH
most common leukemia in western countries.
Chronic Lymphocytis Leukemia - here you get normal b cells replaced with malignant ones, and you get hypogammaglobulinemia
What is the prototypical autoimmune disease producing a lot of symptoms - swelling of joints, rashes, myositis, neuritis.
Systemic Lupus erythematosus
What is the pathology of lupus erythematosus? How do you treat?
Vasculitits of small blod vessel due to high levels of circulating immune complexes. Treat with steroids to decrease immune response.
What is Rituximab?
A drug that targets CD on B cell and eliminates B cells. Good treatment for rheumatologic conditions
What is Alemtuzamab?
a monoclonal antibody taht wipes out a lot of leukocytes. Used in cancer chemo.
What is the most common type of hypersenstivity?
Type I (IgE mediated)
What mediates each type of immune response?
Type I - IgE mediated
Type II - Fc receptors/complement
Type III - immune complex mediated
Type IV - delayed type hypersensitivity, cellular
What is a very common type I hypersensitivity disease?
Allergic rhinoconjunctivits (hay fever) - 20% of people affected
Another name for Eczema?
Atopic dermatitis - chronic inflammatory skin problem. Sometimes caused by leaky epithelium tight junctions
What are the features of the IgE receptors in mast cells?
1) Alpha chain that binds IgE with HIGH affinity
2) gamma chain with signaling ITAM domian
What can cause chronic urticaria (hives)?
Antibodies to IgE or IgE receptor.
What things in the mast cell are newly formed upon activation?
Eicosanoids - leukotrienes and prostaglandins
Cytokines - TNF-a, IL-4,5,6
Widespread increase in this protein in the serum indicates anaphylaxis or systemic inflammatory reaction?
Tryptase (mostly alpha isotype)
What are the immediate pharmacological affects of histamine?
1) pruritus (itching)
2) increase vascular permeability/vasodilation
3) smooth muscle contraction - lungs/bronchii especially
4) gastric acid secretion
What causes the triple response of histamine?
1) local arteriolar dilation and redness (erythema)
2) widespread flare from realease of substance P
3) Wheal produced by vascular permeability
What is the delayed inflammatory response look like?
a prolonged, mostly cellular response caused by cytokines and leukotrienes that continue to increase mucous secretion and inflammatory process. TNF-a is big and important here
How does immunotherapy shots work?
The idea is that a high dose will convert the IgE response to an IgG response, so that IgG will bind antigen before it even gets to IgE
What is Xolair? (Omalizumab)
a monoclonal anti-IgE antibody used to treat Type I hypersensitivity
Difference in Type II and Type III hypersensitivity?
Type II occurs on surface (i guess of pathogen)
Type III occurs with immune complexes.
BOTH involve IgG
Transfusion reactions are an example of what type of hypersensitivity?
Type II
Hemolytic disease of the newborn are an example of what type of hypersensitivity?
Type II
What is hemolytic disease of newborn?
1) first pregnancy, mother who is Rh- has an Rh+ baby, and some of his RBC's leak into her, so she makes Ab to it.
2) subsequent pregancy, with Rh positive fetus, can cause hemolytic anemia
What causes drug induced hypersensitivity?
drugs absorb to surface of RBC's, and usually IgM or IgG3 will bind to them and lyse RBCs. It's a type II hypersensitivity.
What is the mechanism of Type III hypersensitivity?
in situ activation of complement, anaphylatoxin (activation of mast cells/phagocytes), complex mediated phagocytosis and release of granules
4 Type III hypersensitiviy reactions mentioned in class?
1) arthus reactions
2) hypersensitivity pneumonitis
3) Immune complex-mediated glomerulonephritis
4) serum sickness
What is the arthus reaction?
A type III hypersensitivity reaction that occurs after introduction of antigen into individual with LOTs of antibody to it, so you get a lot response within 3-6 hours
What causes hypersensitivity pneumonitis? (type III hs)
different "workers lungs" b/c people make IgG to proteins they are inhaling repeatedly, leads to an "arthus reaction" in the lungs essentially
What causes serum sickness?
allogeneic serum, antivenom from other animals, infections, drugs, autoimmune disorders. It's a type III hypersensitivity event, lead to a lot of immune complexes in the blood
Where do reactions of serum sickness tend to occur?
In areas of tortuosity - blood vessels of kidney, choroid plexus, brain, ciliary bodies in eye) and can cause glomerulonephritis
What hypersenstiivty is involved in chronic graft rejection?
Type IV - Cellular hypersensitivities
What is the formation of a granuloma an example of?
Type Iv hypersenstivity - b/c antigen persist (TB) and T cells are constantly activaetd
What are some Type IV hypersensitivites ?
1) Contact dermatitis - poison IV
2) Foreign body reaction - implant
3) Infecction related (TB, fungal)
4) Chronic graft
What type of hypersenstivity is often ocular allergies?
Type IV.....?