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21 Cards in this Set
- Front
- Back
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Bruton's X-linked Agammaglobulinemia
-gene defect -Ig levels? -Tx? |
-Btk (Bruton's tyrosine kinase)- B cell development signalling, so B cell can't go past pre-B
-No Ig, no germinal centers -Tx w/IVIG |
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Hypergammaglobulinemia
-gene defect -Ig levels? Cell levels? -What else happens? -Tx? |
-CD40L not expressed on T cells, so B cells are present, but only have IgM/D on surface
-Normal B numbers, decreased Ig -May have autoreactive IgMs causing neutropenia, thrombocytopenia -Tx w/IVIG and GM-CSF for neutropenia |
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Common Variable Immunodef.
-gene defect -Ig levels? B cell levels? -increased risk of what ? -3 things pt presents with -Tx? |
-unknown defect, but probably lies with T cells--> B cells affected (but can still be stimulated to produce Ig)
-B cell levels may be reduced; decreased serum IgG (also M and A) -lymphadenopathy, splenomegaly, follicular hyperplasia -Tx w/ IVIG -increased risk of gastric cancer and lymphoma (women) |
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Selective IgA Def
-incidence? -defect -Ig levels? -Tx? |
-Most common immunodeficiency in caucasians
-defect unknown -decreased IgA, also IgG2 and 4 (IgG2 is used for bact. capsular polysaccharides) -Tx w/Abx (NOT IVIG) |
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Hyper IgE
-aka? -gene defect? -Inheritance? -Most common findings? |
-Job's Syndrome
-gene defect unknown (possibly stat3, tk2 defects causing abnormal Th17 function?) -autosomal dominant inheritance -Skin abscesses, pneumonia, high serum IgE, bone issues, Th1/Th2 imbalance (Th2>Th1) |
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Wiskott Aldrich
-gene defect -cell levels -Ig levels -Tx? |
-Gene encoding WASP protein for actin polymerization in T cells
-T cells progressively decrease, B cells expand -IgM levels low, IgG normal, IgA/E elevated -Tx w/Bone marrow transplant |
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Ataxia Telangiectasia
-gene defect -inheritance -pt presents with? -Cell/Ig levels -Pts susceptible to? -Tx |
-gene defect is ATM- for cell cycle control, signal transduction, DNA repair
-autosomal recessive -Ataxic gait ~18 mos, plus telangiectasias on eyes, skin -Decreased t cells, and IgA -Sensitive to radiation (DNA repair), susceptible to infection, malignancies -None |
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DiGeorge
-gene defect/inheritance -CATCH -cell levels -Tx |
-22q11, auto recessive
-Cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypercalcemia -T cells may be normal or decreased, B cells may be normal or elevated -Tx- none |
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HLA Class I Deficiency
-gene defect -Cell levels -Tx |
-Gene defect in TAP2 = no MHC I present on cell surface
-No CD8 T cells = susceptibility to intracellular infections -Tx w/bone marrow transplant |
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HLA Class I Deficiency
-gene defect -Cell levels, Ig Levels -Tx |
-defect in transcription factors RFX and CIITA (essential for HLA II expression)
-no HLAII = no CD4 T cells, thus B cell numbers normal but B cells don't produce Ig (hypogammaglobulinemia) -Tx w/bone marrow transplant |
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IPEX (Immune Dysregulation Polyedocrinopathy Enteropathy X-linked Syndrom)
-genetics -cell levels -clinical presentation -Tx |
-FoxP3 deficiency
-no Treg cells...so lots of autoimmune issues -T1DM, protracted diarrhea, ichthyosiform dermatitis -Tx- nurtrition, blood transfusion, bone marrow transplant |
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ALPS
-genetics -cell levels -clinical presentation -Tx |
-Fas gene defect
-no apoptosis of lymphocytes -swollen lymph nodes due to lymphocyte accumulation -Tx- immunosuppression, bone marrow transplant |
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ADA/PNP SCID
-gene defect -cell levels (B, T, NK) -Tx |
-PNP and ADA- purine degradation enzymes; defect causes toxins to lymphocytes to build up
-ADA affects B and T, PNP mostly T cells; NK normal or elevated -Tx- Bone marrow transplant |
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X-linked SCID
-gene defect -cell levels, Ig levels -Tx |
-Most common type!
-Defect in gamma chain of IL-2R (this is also an element of other IL receptors) -T cells don't get activated, so B cells don't either (T cell numbers are decreaed, B cell normal but fail to mature); Ig level low -Tx- Bone marrow transplant |
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Jak3 SCID
-gene defect -cell levels/Ig levels -Tx |
-Jak3 is tyr kinase for IL-2R and others, so presentation is same as X-linked
-same as x-linked -Tx- bone marrow transplant |
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B cell negative SCID
-gene defect -cell levels/Ig levels -Tx |
-RAG proteins absent
-No TCR/BCR formation = no T/B cells at all, no Ig -Tx- Bone marrow transplant |
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LAD1
-gene defect -Clinical presentation -Tx |
-Defect in beta chain CD19 (used for LFA-1, CR3)- thus leukocyte migration, adhesion, phagocytosis, wound healing impaired
-Key Id-er is delayed umbilical cord separation -Tx-Abx, bone marrow transplant |
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LAD2
-gene defect -clinical presentation -Tx |
-missing carb residue (sialyl lewis x) that would normally allow leukocytes to bind to selectins = impaired leukocyte rolling adhesion
-Tx- Abx, bone marrow transplant |
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Chronic Granulomatous Disease
-gene defect (two types) -clinical presentation -Tx |
-there's and x-linked and autosomal recessive form,but both result in defect of NADPH oxidase enzyme complex --> no superanion production/resp. burst
-Result is inability to kill engulged microorganisms, so pt gets chronic infections and granulomas -Tx- Abx, bone marrow transplant |
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Chediak Higashi
-gene defect -NK vs T cell function -Clinical presentation -Tx |
-lysomes can't fuse w/phagosomes
-NK function is impaired, but Tc cell killing is normal -Albinism (since melanosomes don't work properly either) -Tx- Abx, bone marrow transplant |
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Hallmarks of Wiskott Aldrich?
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thrombocytopenic purpura, eczema, frequent infections
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