MS1 Immunology

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  1. Aplasia/hypoplasia of the thymus + cardiac and parathyroid abnormalities
    low/absent T cells with possibility of autoimmune disease
    susceptible to opportunistic infections
    DiGeorge Syndrome
  2. boys more than girls
    failure to thrive, candidiasis, chronic diarrhea, opportunistic infections, dermatitis/eczema
    T cell dysfunction, T cell lymphopenia, lack of B cell number and/or function
    small, dysplasia of thymus
    Severe combined immunodeficiency
  3. T cells absent
    B cells present in normal numbers but not functional
    • Common gamma chain deficiency
    • X-SCID (T- B+ NK-)
    • could also be JAK3 CD45 IL-2Ralpha
  4. T cells absent with normal B and NK cell numbers
    • TCR specific or important for T cell proliferation:
    • IL-7R or CD3
  5. T and B cells absent
    NK cells present in normal numbers
    • RAG1 RAG2 Artemis or Cernunnos
    • genes involved in TCR and BCR gene rearrangement
  6. ADA, reticular dysgenesis, PNP often with skeletal findings, hearing loss, and behavioral issues
    • Total lymphopenia (T, B, and NK cells) 
    • defect in purine salvage leads to  lymphocytotoxic accumulation of adenosine and deoxyadenosine
  7. Partial defect in RAG1/RAG2, Artemis, IL-7R
    • Atypical SCID or Omenn Syndrome
    • Oligoclonal T cells present
  8. MHCI deficiency, Bare Lymphocyte Syndrome I
    • TAP1, TAP2, mutations lead lack of intrathymic maturation of CD8+ t cells
    • chronic upper respiratory diseases (viral) without opportunistic infections
  9. MHCII deficiency, Bare Lymphocyte Syndrome II
    • Transcription factor defects lead to lack of MHCII expression
    • defective maturation of CD4+ T cells
    • low Ig levels, susceptible to opportunistic infections
  10. X linked defect in WASP (regulates actin in T cells and megakaryocytes)
    petechiae, thrombocytopenia, small platelets, eczema (severe in infancy), sinopulmonary and opportunistic infections
    Wiscott-Aldrich
  11. Cerebellar gait, occulocutaneous (bloodshot eyes), radiation sensitivity, dysgammaglobulinemia, lymphopenia, lymphoma, increased sinopulmonary infections
    Ataxia-telangiectasia, ATM gene defect, no dsDNA break repair
  12. Well for first few months then constant otitis, sinusitis, pneumonia, and diarrhea
    small or absent lymph nodes, tonsils and adenoids
    low or absent B cells
    X linked agammaglobulinemia (XLA)
  13. Recurrent respiratory tract infections, more prone to autoimmune disease and lymphomas, reduced levels of one or more Ig and impaired antibody production
    • Common Variable Immunodeficiency
    • TACI mutations
  14. recurrent infections, autoimmunity, allergy
    common disease, most people are asymptomatic
    Selective IgA Deficiency
  15. Transient hypogammaglobulinemia of Infancy
    • Commonly corrects by 2 years
    • IgA and IgM can also be low
    • Antibody responses are usually ok
  16. Recurrent and severe infections with Staph aureus, Serratia, Burkholderia, Nocordia, Candida, Aspergillus
    Gastric outlet obstruction, colitis, hydronephrosis
    Dx with dihydrorhodamine oxidation
    • Chronic Granulomatous Disease
    • defects in NADPH oxidase complex (gp91phox)
  17. Impaired wound healing, severe periodontitis, omphalitis with delayed separation of the umbilical cord, no pus, leukocytosis
    • Leukocyte Adhesion Deficiency
    • LAD 1 mutation in CD18 (LFA-1) 
    • LAD 2 defect in fucosylation leads to lack of E selectin ligand
  18. mast cell and basophil activation
    systemic anaphylaxis, localized anaphylaxis
    ex. Hay fever, asthma, hives, food allergies, eczema
    Type I (IgE mediated) hypersensitivity reaction
  19. complement or ADCC effectors against cell surface antigens
    ex. Blood transfusion reactions, erythroblastosis fetalis, and autoimmune hemolytic anemia
    Type II (IgG or IgM mediated cytotoxic) hypersensitivity reaction
  20. Antigen-antibody complexes deposit in tissu and induce complement activation with ensuing inflammatory response, esp. neutrophils
    ex. Localized arthrus reaction, serum sickness, necrotizing vasculitis, glomerulonephritis, rheumatoid arthritis, and SLE
    Type III (Immune complex mediated) hypersensitivity reaction
  21. Sensitized Th1 cells activate macrophages or Tc cells which mediate cellular damage
    ex. Contact dermatitis, tubercular lesions, and graft rejection
    Type IV (Cell mediated) Hypersensitvity reaction
  22. graft rejection cannot be treated, occurs within minutes to hours, by type II and type III Hypersensitvity (antibody dependent)
    Hyperacute rejection
  23. graft rejection mediated by T cells (type IV) and B cells that produce alloantibodies (type III) 
    trested with immunosuppression, steroids, T cell depletion, and plasmapheresis
    Acute rejection
  24. graft rejection months to years after transplant, main target endothelium, fibrosis and extensive tissue damage
    inflammation, cytokines, anti-HLA
    • Chronic rejection 
    • diagnosed with biopsy
    • often confused with maintenance drug toxicity
  25. Red painful swelling, especially in toes/1st MTP  joint
    links to hypertension, obesity, and alcohol consumption
    intracellular and extracellular negatively birefringent (yellow) needle shaped crystals
    Acute gout
  26. Red, painful joint swelling
    more common in knees and wrists
    associated with osteoarthritis, hyperparathyroidism, hemochromatosis, hypophosphatemia, osteodystrophy
    intracellular and extracellular positively birefringent (blue) rhomboid shaped crystals
    fluffy white radio-opaque chondrocalcinosis
    Calcium Pyrophosphate Deposition Disease (CPPD) or Pseudogout
  27. Probenecid
    Blocks Uric acid transporters which reuptake urate from urine
  28. Kineret (anakinra), Rilonocept, Canakinumab (Ilaris)
    IL-1 or receptor antagonist
  29. Colchicine
    blocks Uric acid activation of the inflammasome
  30. allopurinol febuxostat pegloticase
    • Chronic treatment of gout
    • first 2 are xanthine oxidase inhibitors, uroticase breaks down Uric acid
Author:
sjernst
ID:
316128
Card Set:
MS1 Immunology
Updated:
2016-02-19 16:50:52
Tags:
autoimmune immunology autoinflammatory
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Description:
Diseases and basic concepts in immunology PittMed
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