Term
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Definition
| progressive amrrow failure, congential anomaleis- predisporition for luekamias and soldi tumours (squamosu cell). Short stature, unusaul pigmentaiton, and radial abonromalities. Diagnosis: looking for chromage breakage. FANCD1-BRCA2 involved in homologous dna break recombination repair. |
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Term
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Definition
| nails, reticular rash (skin), mcous leukoplakia. Iincreased risk of leukemia/soldi tumors- pulmonary fibrosis., teeth. Defect in telomerase . DKC1 mutation(in x linked autosomal recessive), TERC (telomrase rna, or TERt 9telomrase reverse transcriptatse deficiencies in autosomal dominant form)= preamature senescence |
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Term
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Definition
| presents inearly infancy. anemias. Facial radial, renal , cardiac abnormalities. Increased risk of AML, aplastic anemia . RPS19 deect- compoenent of ribosomal subunit- decreased hemogloblin/rbc prod. |
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Term
| Schwachman Diamond Sndrome |
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Definition
| Exocrine pancreatic isnuffieiny/bone marrow failure. Steattorhea/filature to thrive. Lowt rypsingoenand isoamylase. No increasedrisk of solditurmorus, however increased risk of aplatic anemia and AML. SBDS gne defect- RNA metabolism so reduced protein production |
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Term
| aplastic anemia sverity scale |
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Definition
2 of 3 required : hemoglobin (Hb) < 10g/dl;
platelets < 50,00/mm3, absolute neutrophil count
(ANC) < 1500/mm3) with a hypocellular bone marrow
in the absence of an abnormal infiltrative process. For severe: less tha n25 percent cellularity and above . Very severe: Anc <200 |
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Term
| paroxymal nocturnal hemoglobinuria |
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Definition
| Shortage of p rotein on cell surfacethat have GPI link- linakge of glycoprotein to cell surface . Pig-A x linked mutation resposnbiel for this selected preferntially as late clonal disorder. Mechanism of hemolysis: defect in GPI binding of CD 55 and 59 , both preventing complement mediatd lysis. also thrombosis. Also leads to esophageal spasm , atigue, lack of erectyle dysfunction (NO isbound by free hemoglobin). Diagnosis: pnh clone detected by flow cytometry Therapy: Eculzimab- Ab- to terminal C5 component. |
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Term
| stem cell characteristics |
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Definition
| aldehyde dehydrogenase- protects the cell, breakign down foreign products. Drug restistance pumps- shoots foriengers out. Apoptosis- is resistant to it. Can matabolizei n inunique wys alsmot sporeliek. Also slowly renew, keep replciation slow to avoid to omuch mutation. |
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Term
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Definition
| niche surroundign hsc has role in myeloprolfieration. I.e. Rb ianctivation results in myelo prolfieration, but this is due to niche mutation. |
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Term
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Definition
| generation of new epitopes which may induce an immune response |
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Term
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Definition
| drugs , toxins, virsuses, heridatry . |
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Term
| common cause of aplastic anemia |
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Definition
| autoimmune relatd. Even bm transplant form twinss is sueful, whereas autologus tranaplsant is seufl as long as use immunosupression. Immunosupresison can work on its own. |
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Term
| aplastic anemia treatment |
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Definition
| Treatment: fatal if not treated. Allogenic HSc transplatn. Immunosuprpesive therapy. >40 , no hla match? Use immunosupresive. If opposite use transplant. |
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Term
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Definition
| as a result of immunosupression, abnormal cells prolfierate that would have otherwise been killed by immune cells. |
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Term
| HSC transplants HLA typing |
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Definition
| important because not pure stem cells, lymphocytes will be transferred as well |
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Term
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Definition
| autologous- selectedmalignancies, as arescue from high dose chemo, and autoimmune disorders. Allogenic- high risk advanced hematologic malignancies, and many primary bone marrow disroders |
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Term
| advantage and disadvantage of superior hla matching |
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Definition
| can te cell deplete donor graft, or use syngeniec transfer. Disadvantage is that decreased ghvhd = decreased gvt, which means increased relapse rate. |
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Term
| 2 ways to deal with malignant disease |
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Definition
| high dose chemtoehrapy/radiation, or donor t cells- either way risk of damage to host cells |
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Term
| minor histocompatilibty antigens |
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Definition
| peptide difference beteween donor and host antigens |
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Term
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Definition
| relapse infection organ toxicity graft vs host disease |
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Term
| purpose of immunosupression before transplant |
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Definition
| delete tranplant reactive t cells . And host reactive donor cells? |
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Term
| fibroblasts from same person our now looekd at as possible way to creative hsc from persons own cells. |
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Definition
| need to sue a virus to transform these cells |
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