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20 Cards in this Set
- Front
- Back
Epidermolysis Bullosa Simplex
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mutation in keratin, blistering
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Hutchinson-Gillford Progeria Syndrome
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mutation in lamin A, premature aging
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Alzheimer’s
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Tau issues, dimentia
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Kartagener’s
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Dynein absent from cilia/flagella, sterility, increased infections, 50% chance organ reversal
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Polysistic Kidney Disease
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Mut in Primary Cilia, can’t bend --> uncontrolled growth --> cysts
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Ehlers-Danlos
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mutation in Type III collagen
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Scurvy
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Lack Vitamin C, decrease collagen cross-linking
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Marfan’s Syndrome
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mutation in fibrillin/elastin -->aortic rupture
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LAD (Leukocyte Adhesion Deficiency)
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leukocytes have no β expressed, cannot mount inflammatory response
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Tumor
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have increased FAK to help secure in a new environment
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MS
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T cells invade brain, paralysis -->death
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Crohn’s
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T cells invade GI, GI issue
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Pemphigus
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attack desmosomes, blistering disease
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Pemphigoid
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attack hemidesmosomes, blistering disease
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Usher’s Syndrome
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mutation in myosin VIIA, deafness and blindness
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WAS
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WASP defective, poor leukocyte movement, increased infections
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Spherocytes
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no ankyrin, abnormal RBC
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Elliptocytosis
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no spectrin, abnormal RBC
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DMD
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dystrophin gene mutated
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Glanzmann’s Thrombasthenia
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αIIbβ3 missing -->no blood clots
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