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56 Cards in this Set
- Front
- Back
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Autoimmune thrombocytopenic purpura
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Antibody Target - Platelet membrane antigens Consequence - Thrombocytopenia |
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Pemphigus Vulgaris symptoms
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perioral and sublingual blisters |
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pemphigus vulgaris
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antibody target: desmoglein (cadherin) conseq - compromised tight junctions |
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goodpasture's disease
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antibody target - collagen conseq - bleeding in lung and kidney (esp. glomerulonephritis) |
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acute rheumatic fever
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conseq - damage to heart and arthritis |
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remember about acute rheumatic fever!
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cardiac problems, arthritis, skin rash |
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graves disease
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antibody target - TSH receptor conseq - hyperthyroid |
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remember about graves disease
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receptor dysfunction & protrusion of eyeballs |
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myasthenia gravis
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conseq - muscle weakness |
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transient neonatal myasthenia gravis
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baby born to mom with myasthenia gravis |
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multiple sclerosis
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type 4 TH1 target - myelin-basic protein conseq - destruction of nerve cells |
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type 1 diabetes
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Conseq - destruction of insulin-producing cells |
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rheumatoid factors direct against?
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RFs are antibodies directed against IgG Fc fragment
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what are anti-nuclear antibodies (ANA)
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ANA are antibody that binds to nuclear components |
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rheumatoid arthritis is what type, what type of arthritis and what HLA type?
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symmetrical arthritis HLA type DR4 |
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what to remember about rheumatoid arthritis?
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rheumatic factor & anti-CCP (anti citrullinated cyclic peptide) |
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what do activated macrophages in rheumatoid arthritis secrete?
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TNF-alpha |
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what is associated with inappropriate stimulation of immune cells?
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defective clearance - erythematosus (SLE)
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what's responsible for erythematosus (SLE)
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auto-reactive B-cells production of ANA |
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what DNA seen in 605 of SLE patients, highly specific for SLE and associated with nephritis?
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Anti-ds DNA |
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–Seenin 30% of SLE patients Highlyspecific for SLE –MeasurementofAnti-dsDNA,Anti-Sm andANA is quantified by immunofluorescenttiters |
anti-sm (smith) ribonucleoprotein
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beak-like appearance, skin induration and thickening, tissue fibrosis
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scleroderma |
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what 4 things in scleroderma
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anti-scl 70 destruction of connective tissue fibrosis |
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diffuse scleroderma
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renal crisis and failure pulmonary and myocardial fibrosis |
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sjogren's syndrome symptoms
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dental carries, irritation in mouth, difficulty swallowing, dry eyes
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accumulation in sjogren's syndrome
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destruction of exocrine glands |
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sjogren's syndrome is what kind of disease?
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systematic inflammatory disease |
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polymyositis/dermatomyositis target?
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purple rash, patchy redness over knuckles |
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Adenosine Deaminase Deficiency
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no thymic shadow lymphocyte count was 150 cells |
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No B, T or NK cells
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Adenosine Deaminase Deficiency (ADA gene) |
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virus and pneumonia (t cell involved) No NK or T cells, Normal B cells |
X-lined common gamma chain (mutation in common gamma chain gene) |
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absence of b cells and few t cells low serum Ig levels eosinophilia |
SCID - Omenn (RAG) |
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mutation in RAG 1 or RAG 2
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SCID - Omenn (RAG) |
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underdeveloped jaw & absence of thymus on xray
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DiGeorge Syndrome |
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DiGeorge mutation?
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deletion of TBX1 (hemizygous deletion) |
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No T cells, normal NK and B cells
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DiGeorge Syndrome |
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neurological symptoms, ataxia, telangiectasia (blood vessels in eye), premature aging
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Ataxia telangiectasia (AT) |
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AT gene defect? and function?
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ATM gene, function is dna repair |
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bloom syndrome gene?
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DNA helicase, reduced T cell number |
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bloody diarrhea, eczema, petechiae, maternal uncle, low platelet size and volume and thrombocytopenia
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wiskott Aldrich syndrome (WAS) |
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Wiskott Aldrich Syndrome gene and defect?
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WASP gene, defect in platelet development, impaired T cell activation |
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bronchiectasis, recurrent severe URI/lung viral infections, 1 of 4 ssibs, normal CD4 and abnormally low CD8
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bare lymphocyte syndrome type 1 |
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bare lymphocyte syndrome type 1 gene and defect
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TAP mutation, no positive selection for CD8 cells, normal cd 4 |
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immunization w/o any local or systematic responses, recurrent infections, younger sibs die from pneumonia, low CD4, normal CD8, hypogammaglobulinemia
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bare lymphocyte syndrome type 2
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bare lymphocyte syndrome type 2 mutation
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mutation in transcription factor CIITA or RFX |
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X-linked agammaglobulinemic BTK
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No B-cells balanitis - penis inflammed pneumonia X-linked - BOY! mutation in BTK |
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CVID
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Normal to low IgM Very low IgG, IgA herpes mutation in various genes in B cell activation |
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X-linked hyper IgM syndrome |
high IgM very low IgA, IgG, IgE x-linked, mutation in CD40L, no germinal centers |
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AID deficiency
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undetectable IgG (no IgA, IgE) lots of ear infections AID mutation, HAS CD40L!! |
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selective IgA deficiency
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not fully understood, no IgA, hypertrophy of mucosa |
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leukoxyte adhesion deficiency (LAD)
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leukocytosis baby's umbilical cord fails to fall off mutation in CD18 and CLFA-1 |
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Chronic granulomatous disease (CGD) |
staph abscess on chest wall NADPH oxidase mutation NITROBLUE TETRAZOLIUM TEST (NBT) |
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chediak-higashi syndrome |
increased bacterial infection, prominent granules mutation in LYST |
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C5-C9 defect in MAC |
highly susceptible to Neisseria |
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hereditary angioneurotic edema |
swelling and edema on upper extremeties mutation in C1NH |
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paroxysmal nocturnal hemoglubinuria
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epigastric pain hemolysis complement inhibitors |
