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20 Cards in this Set

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