Ch.2 Immunological Diseases

Question 1

• Developmental failure of the third and fourth pharyngeal pouches (22q11 microdeletion)
• Presents with T-cell deficeny (no thymus), hypocalcemia (no parathyroids), and abnormalies of heart , great vessles, and fase

Answer 1

Digeorge Syndrome

Primary immunodeficency b/c missing thymus!

Question 2

Defective cell mediated and humoral immunity= no adaptive immunity
1. Cytokiene defects (bad signling for proliferiton & maturation of B & T cells)
2. ADA definceny; build up of things toxic to lymphocytes
3. MHC Class 2 defincency (no acitvation of CD4+ t-helper cell & cytokiene production)

Answer 2

Severe combined immunodeficiency (SCID)

Question 3

Factors characterize what disease?

1. Susceptibility to fungal, viral bacterial and protozoan infections, as well as live vaccines
2. Treatment is** sterile isolation** + stem cell transplant

Answer 3

SCID

Question 4

What disease?

Complete lack of immunoglobulins due to disordered B cell maturation.
No humoral immunity (no Ig____) Only Cell mediated (t-cell arm)*

due to mutate Burton tyrosine kinase

Answer 4

X linked Agammaglobulinnemia

Question 5

What disease presents with:

After six months of life with recurrent bacterial, enterovirus (polio & coxsackievirus), and Giardia Lamblia infection

6 months post birth cause thats when IgG from placenta are gone

Live vaccines (polio) must be avoided

Answer 5

X linked Agammaglobulinnemia

Question 6

• **Low immunoglobulin **due to B cell or helper T cell defects
• Increased risk for bacterial, enterovirus (polio & coxsackievirus), and Giardia Lamblia infection (late childhood)
• increased risk for autoimmune disease and lymphoma

Answer 6

Common variable immunodeficiency (CVID)

Question 7

• Low serum and mucosal** IgA** (most common immunodefincey)
• Increased risk for mucosal infection; especially viral, however, most patients are asymptomat

Answer 7

IgA defeciency

Question 8

** Characterized by elevated IgM levels **
* due to *mutated CD40L on helper T or CD40 receptor *
* Second signal follwing antigen presentaion can be delivered to helper t cells = no activation
* **Cytokienes **for Ig- class switchin **not produced **
* Results in low IgA, IgG, and IgE= **recurent pyogenic infection, esp in mucosal sites **

Answer 8

Hyper IgM Syndrome

Question 9

• Characterized by** thrombocytopenia (**low platlets= no blood clot) , eczema, and recurrent infection.
• **Bleeding **is major cause of death
• due to mutation in **WASP gene (x-linked) **

Answer 9

Wiskott-Aldrich Syndrome

Question 10

• C5-C9 deficency increased risk for Neisseria infection (N Gonorrhoea and N meningitidis)
• CI inhibitor defficney= hereditary** angiodema,** edema of skin and mucosal surfaces

Answer 10

Complement defincencies

Question 11

Characterized by immune mediated damage of self tissues
* 1-2% of US population has
Basic mechanism= **intolerance to self proteins, reaction to self **

Answer 11

Autoimmune disorders

Question 12

Self reactive lymphocytes are regularly generated, but develop ___ or ____

Answer 12

Central (thymus or bone marrow) or peripheral tolerence

Apoptosis!

Question 13

Central tolerance in the thymus leads to ____ apoptosis are generation of what?

Answer 13

T-cell apoptosis or Regulatory T cells

Question 14

Central tolerance in the bone marrow leads to __ or __

Answer 14

Receptor editing or B-cell apoptosis

Question 15

Peripheral tolerance leads to ___ or ___ of T and B cells

Answer 15

anergy or apoptosis

Question 16

____ Pathway mutations result in autoimmune lymphoproliferative syndrome (ALPS)

Answer 16

Fas Apoptosis

Question 17

Supress autoimmunity by blocking T-cell activation and producing anti-inflamatory cytokiens (IL-10 and TGF-Beta)

Answer 17

Regulatory T-Cells

Question 18

CD25 polymorphisms are ssociated with ___

Answer 18

Autoimmunity

Question 19

FOXP3 mutations lead to ___ syndrome

Answer 19

IPEX syndrome

Question 20

Autoimmune diseases are more common in what demographic

Answer 20

Woman in childbearing age, hypoestrogen may reduce apotosis self reacting B-cells

Question 21

T-cells are activated in a T-cell receptor indepened and cytokiene dependent manner

Answer 21

Bystander acitvation

escaped permits

Question 22

Comon course of autoimmune disorders

Answer 22

Relaspe Remission cycle

Question 23

APC coming with antigen, presenting to CD4 Cells, interacts, Self-Activation of CD8 & CD4 Cells
BUT these cells are reactive to self-antigens in the body ex. DNA

GO kill or activate NK cells which go and react to self.

Cytokine IL-15 induced

Answer 23

Bystander effect

Question 24

1. Virus/bacteria carry antigens similar to body self antigen (smart cookie)
2. Finds Autoreactive T-cell
3. Starts **Response to self antigens **(attacking own body) , self antigens are released from damaged tissues (i.e it is not genetic issue)
4. APC present self antigen to autoreactive T cells which are activated and undergo clonal proliferation and more self-tissue damage occurs.

Answer 24

Molecular Mimicry

Question 25

Chronic systemic autoimmune disease (lots of flares & remission)
middle aged females esp. AA women
Any tissue can be involved

Answer 25

Systemic Lupus Erythematosus (SLE)

Question 26

SLE is a Type _ hypersensitvity reaction
Antigen-antibody complexes damage tissues

Answer 26

Type 3 Hypersensitivyty

Question 27

____ are considered markers of diagnosis and prognosis of the SLE. High leveles mean far from remission.

Answer 27

Anti-nuclear-antibodies ANA

Question 28

____ are highly specific for diagnosis of SLE

Answer 28

Anti dsDNA

Question 29

Deposit in joints= because speed of vessels is slowest (much less blood), ex. Liver, spleen, cartilage.

Answer 29

SLE

Question 30

DNA ____ acitvate TLR and amplify immune response in SLE

Answer 30

DNA antigens

Question 31

Classic findings of what disease?

• Fever, weightloss, fatigue
• **malar butterfly rash **on face esp upon exposure to sunline
• **oral/nasopharygeal ulcers (painless **
• Arthrisis
• Physcois & seziures
• **Renal damage **
• Anemia, thrombocytopenia, leukopenia
• endocarditis

Answer 31

Systemic Lupus Erythematosus

Question 32

Auto immune destruction of lacrimal and salivary glands lymphocyte mediated damage (type 4 hypersensistivity) with fibrosis

Answer 32

Sjogren Sydrome

Question 33

Presents in patients with dry eyes, dry mouth and recurrent dental cavities.

Swollen parotid glands, bilaterally

May progress to ulceration in corneal epitheliumm and oral mucosa

Answer 33

Sjogren Sydrome

Associated with ANA & Anti-ribonucleoprotins antibodies

Question 34

Sclerosis (hard, fiborus, no elasticity lots of contractio) of skin and visceral organs occurs by normal, fibroblast activation in multiple tissues

• middle aged female 30-50
• genetic, but risk factors like silica exposure & organic solvents
• Endothelial dysfuction-> inflmation -> vasoconstriction, growth factor released
• initially ski, move deeper and cause organ damage

Answer 34

Systemic Sclerosis (Scleroderma)

Question 35

What disease?

CREST Syndrome is halmark of what?
Valve system faliure
Common in
1. vessles
2. GI tract
3. Lungs
4. Kidneys

Answer 35

Systemic Sclerosis (Scleroderma)

Question 35

Early organ involvmment

Answer 35

Diffused type of Systemic Sclerosis (Scleroderma)