Ch.2 Immunological Diseases Flashcards
- 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
Digeorge Syndrome
Primary immunodeficency b/c missing thymus!
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)
Severe combined immunodeficiency (SCID)
Factors characterize what disease?
- Susceptibility to fungal, viral bacterial and protozoan infections, as well as live vaccines
- Treatment is** sterile isolation** + stem cell transplant
SCID
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
X linked Agammaglobulinnemia
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
X linked Agammaglobulinnemia
- **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
Common variable immunodeficiency (CVID)
- Low serum and mucosal** IgA** (most common immunodefincey)
- Increased risk for mucosal infection; especially viral, however, most patients are asymptomat
IgA defeciency
** 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 **
Hyper IgM Syndrome
- 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) **
Wiskott-Aldrich Syndrome
- C5-C9 deficency increased risk for Neisseria infection (N Gonorrhoea and N meningitidis)
- CI inhibitor defficney= hereditary** angiodema,** edema of skin and mucosal surfaces
Complement defincencies
Characterized by immune mediated damage of self tissues
* 1-2% of US population has
Basic mechanism= **intolerance to self proteins, reaction to self **
Autoimmune disorders
Self reactive lymphocytes are regularly generated, but develop ___ or ____
Central (thymus or bone marrow) or peripheral tolerence
Apoptosis!
Central tolerance in the thymus leads to ____ apoptosis are generation of what?
T-cell apoptosis or Regulatory T cells
Central tolerance in the bone marrow leads to __ or __
Receptor editing or B-cell apoptosis
Peripheral tolerance leads to ___ or ___ of T and B cells
anergy or apoptosis
____ Pathway mutations result in autoimmune lymphoproliferative syndrome (ALPS)
Fas Apoptosis
Supress autoimmunity by blocking T-cell activation and producing anti-inflamatory cytokiens (IL-10 and TGF-Beta)
Regulatory T-Cells
CD25 polymorphisms are ssociated with ___
Autoimmunity
FOXP3 mutations lead to ___ syndrome
IPEX syndrome
Autoimmune diseases are more common in what demographic
Woman in childbearing age, hypoestrogen may reduce apotosis self reacting B-cells
T-cells are activated in a T-cell receptor indepened and cytokiene dependent manner
Bystander acitvation
escaped permits
Comon course of autoimmune disorders
Relaspe Remission cycle
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
Bystander effect
- Virus/bacteria carry antigens similar to body self antigen (smart cookie)
- Finds Autoreactive T-cell
- Starts **Response to self antigens **(attacking own body) , self antigens are released from damaged tissues (i.e it is not genetic issue)
- APC present self antigen to autoreactive T cells which are activated and undergo clonal proliferation and more self-tissue damage occurs.
Molecular Mimicry
Chronic systemic autoimmune disease (lots of flares & remission)
middle aged females esp. AA women
Any tissue can be involved
Systemic Lupus Erythematosus (SLE)
SLE is a Type _ hypersensitvity reaction
Antigen-antibody complexes damage tissues
Type 3 Hypersensitivyty
____ are considered markers of diagnosis and prognosis of the SLE. High leveles mean far from remission.
Anti-nuclear-antibodies ANA
____ are highly specific for diagnosis of SLE
Anti dsDNA
Deposit in joints= because speed of vessels is slowest (much less blood), ex. Liver, spleen, cartilage.
SLE
DNA ____ acitvate TLR and amplify immune response in SLE
DNA antigens
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
Systemic Lupus Erythematosus
Auto immune destruction of lacrimal and salivary glands lymphocyte mediated damage (type 4 hypersensistivity) with fibrosis
Sjogren Sydrome
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
Sjogren Sydrome
Associated with ANA & Anti-ribonucleoprotins antibodies
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
Systemic Sclerosis (Scleroderma)
What disease?
CREST Syndrome is halmark of what?
Valve system faliure
Common in
1. vessles
2. GI tract
3. Lungs
4. Kidneys
Systemic Sclerosis (Scleroderma)
Early organ involvmment
Diffused type of Systemic Sclerosis (Scleroderma)
