Autosomal diseases Flashcards
Abnormal neutrophil chemotaxis (decreased INF gamma production by Th1 cells)
Job syndrome
Hyperimmunoglobulin E syndrome (hyper IgE)
Job
Mutation in STAT3 gene
Job syndrome
Coarse fancies, abscesses caused by staph aureus, primary teeth retained, IgE elefantes. Eczema, ulcers, pustules, scaling, blisters or rashes, scoliosis
Job syndrome
Genetic predisposition for early development of cancer, mutation in p53 gene
Li fraumeni
—- gene prevents damage by arresting mutant dna cells in G1/S phase of cel cycle until cell is repaired.
p53
Molecule ——- targets p53 for degradation in Li fraumeni, this p53 degraded and tumor forms
Mdm2
Inheritance of one allele of p53. Then one —- mutation of the second allele then rapid development f malignant tumor at age less than —-
Somatic, 45
Family history of multiple types of cancers in poeple <45 years old
Li fraumeni
Most common tumor of this disease are seen in breast, adrenal, Cortex, brain, blood (leukemias’
Li fraumeni
Porphobilonogen deaminase def,
Acute intermittent porphyria
As of acute intermittent porphyria
Severe abdominal pain, peripheral neuropathy (patchy), CNS signs (anxiety, hallucinations, agitation, delirium, pee abnormality (dysuria, retention, incontinence, darkening), no rash
Acute porphyria intermittent
Uroporphyrinogen I synthase
Porphyria cutánea tarda
Uroporphyrinogen III decarboxylase
VHL gene mutation
Von hippel lindau
VHL gene mutation disrupt the ——- —- complex
Ubiquitine ligase complex
HIF -1 alpha is what? Related to what disease.
Hypoxia indicting factor alpha. Related to VHL disease.
Effects of HIF-1 alpha
Induces PDFg, VEGF, EPO and TGF alpha . Which bring about more vessels, so more blood, so more oxygen to respond t hypoxia situations.
When is HIF 1 alpha abnormally expressed in large amounts as though person we’re in hypoxia situation?
VHL
Hemangioblastoma, Rena cell carcinoma, and pheochromocytoma
VHL
vWF gene is in chromosome —-
Chromosome 12
What is platelet adhesion? What does it INVOLVE (ingredients, if you will)?
Exposure of collagen, receptors of collagen bind to vWF, then vWF bind tosurfwce receptor on platelet called gp1b
What are the ingredients of platelet aggregation?
Platelet changes conformation and expresses on its surface: ADP and TXA2.
Then receptor gp2b3a is expressed and binds fibrinogen, which binds another platelet’s gp2b3a.
What drug prevents adhesion of platelets
Clopidogrel
What drugs prevent platelet aggregation?
Abciximab, agrostat
Early clotting is done by —— or white clots
Platelet clots
Late clotting is done by red or —- clots
Fibrin clots
Types of vWF: Type 1, what happens with vWF? Type 2a? Type 2b Type 3?
Type 1- quantitative, very little vWF (most cases)
Type 2a— quantity is normal but quality no, the ones that are present cannot function well
Type 2b - the ones present function too well, they hyper bind to collagen so they get out of circulation, so very little available vWF and little platelets
Type 3 - complete absence of vWf
