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