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Step 1 > Immunology > Flashcards

Immunology Flashcards

1
Q

HLA-A3

A

Hemochromatosis

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2
Q

HLA-B8

A

Addison disease, myasthenia gravis

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3
Q

HLA-B27

A

Seronegative Spondyloarthropathies: Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, Reactive arthritis

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4
Q

HLA-DQ2

A

Celiac Disease

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5
Q

HLA-DQ8

A

Celiac Disease

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6
Q

HLA-DR2

A

Multiple sclerosis, hay fever, SLE, Goodpasture sndrome

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7
Q

HLA-DR3

A

Type 1 Diabetes, SLE, Graves disease, Hashimoto thyroiditis, Addison disease

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8
Q

HLA-DR4

A

Rheumatoid arthritis, Type 1 Diabetes, Addison disease

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9
Q

HLA-DR5

A

Pernicious anemia (Vit. B12 deficiency), Hashimoto thyroiditis

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10
Q

Hypersensitivity Type 1

A

Anaphylactic and atopic, free antigen crosslinks IgE on presensitized mast cells and basophils triggering histamine release; IgE abs mediated, skin test specific for IgE

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11
Q

Hypersensitivity Type 2

A

Cytotoxic: IgM, IgG abs mediated against antigens on cell surface, ab and complement lead to MAC; usually tissue specific; Direct Coombs’ test: detects abs that have adhered to pt’s RBCs (mix blood sample with ab against Fc receptor i.e. rheumatoid factor –> agglutination), Indirect Coombs’ test: detects serum Abs that can adhere to other RBCs (mix pt serum with different blood sample and rheumatoid factor)

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12
Q

Hypersensitivity Type 3

A

Immune complex: IgG abs against “free-floating” antigen forms antigen-antibody-complement complex; associated with vasculitis and systemic manifestations

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13
Q

Hypersensitivity Type 4

A

Delayed T-cell-mediated: sensitized T-cells encounter antigen and then release cytokines that lead to macrophage activation. No Abs mediating response.

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14
Q

Anti-ACh receptor

A

Myasthenia gravis

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15
Q

Anti-basementmembrane

A

Goodpasture syndrome

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16
Q

Anticardiolipin

A

SLE, antiphospholipid syndrome

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17
Q

Lupus anticoagulant

A

SLE, antiphospholipid syndrome

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18
Q

Anticentromere

A

Limited scleroderma (CREST syndrome i.e. Calcinosis, Raynaud phenomenon, Esophogeal dysmotility, Sclerodactyly, Telangiectasia)

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19
Q

Anti-desmoglein (Anti-desmosome)

A

Pemphigus vulgaris

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20
Q

Anti-dsDNA

A

SLE

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21
Q

Anti-Smith

A

SLE

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22
Q

Anti-glutamic acid decarboxylase (GAD-65)

A

Type 1 Diabetes

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23
Q

Antihemidesmosome

A

Bullous pemphigoid

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24
Q

Anti-histone

A

Drug-induced Lupus

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25
Q

Anti-Jo-1

A

Polymyositis, Dermatomyositis

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26
Q

Anti-SRP

A

Polymyositis, Dermatomyositis

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27
Q

Anti-Mi-2

A

Polymyositis, Dermatomyositis

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28
Q

Antimicrosomal

A

Hashimoto thyroiditis

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29
Q

Antithyroglobulin

A

Hashimoto thyroiditis

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30
Q

Antimitochondrial

A

Primary Biliary Cirrhosis

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31
Q

Antinuclear

A

SLE, nonspecific

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32
Q

Antiparietal cell

A

Pernicious anemia

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33
Q

Antiphospholipase A2 receptor

A

Primary membranous nephropathy

34
Q

Anti-Scl-70

A

Scleroderma (diffuse)

35
Q

Anti-DNA topoisomerase 1

A

Scleroderma (diffuse)

36
Q

Anti-smooth muscle

A

Autoimmune hepatitis Type 1

37
Q

Anti-SSA

A

Sjögren syndrome

38
Q

Anti-SSb

A

Sjögren syndrome

39
Q

Anti-Ro

A

Sjögren syndrome

40
Q

Anti-La

A

Sjögren syndrome

41
Q

Anti-TSH receptor

A

Graves disease

42
Q

Anti-U1 RNP (ribonucleoprotein)

A

Mixed connective tissue disease

43
Q

Voltage-gated calcium channel antibodies

A

Lambert-Eaton syndrome

44
Q

IgA anti-endomysial

A

Celiac disease

45
Q

IgA anti-tissue transglutaminase

A

Celiac disease

46
Q

MPO-ANCA

A

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)

47
Q

p-ANCA

A

Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)

48
Q

PR3-ANCA

A

Granulomatosis with polyangiitis (Wegener)

49
Q

p-ANCA

A

Granulomatosis with polyangiitis (Wegener)

50
Q

Rheumatoid factor (IgM Ab that targets IgG Fc region)

A

Rheumatoid arthritis

51
Q

Anti-CCP

A

Rheumatoid arthritis (more specific)

52
Q

Bruton Agammaglobulinemia defect

A

Defect in BTK, a tyrosine kinase gene, no B-cell maturation. X-linked recessive

53
Q

Bruton Agammaglobulinemia presentation

A

Recurrent bacterial and enteroviral infections after 6 months i.e. decreased maternal abs. Absent B cells in peripheral blood, decreased Ig of all classes; absent or scanty lymphnodes and tonsils

54
Q

Selective IgA deficiency defect

A

Most common primary immune deficiency. Decreased IgA with normal IgG and IgM levels

55
Q

Selective IgA deficiency presentation

A

Majority Asymptomatic. Can see Airway and GI infections (secretory mucosa), Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.

56
Q

Common variable immunodeficiency defect

A

Defect in B-cell differentiation. Can be acquired in 20s-30s. Many causes?

57
Q

Common variable immunodeficiency presentation

A

Increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections. Decreased plasma cells and immunoglobulins.

58
Q

DiGeorge syndrome defect

A

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches resulting in absent thymus and parathyroids.

59
Q

DiGeorge syndrome presentation

A

Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (tetrology of Fallot, truncus arteriosus). Decreased T-cells, PTH, Ca, absent thymic shadow on CXR, 22q11 deletion detected by FISH.

60
Q

IL-12 receptor deficiency defect

A

Decreased Th1 response. Autosomal recessive.

61
Q

IL-12 receptor deficiency presentation

A

Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine. Decreased IFN-gamma.

62
Q

Hyper IgE syndrome (Job syndrome) defect

A

Deficiency of Th17 cells due to STAT3 mutation resulting in impaired recruitment of neutrophils to sites of infection.

63
Q

Hyper IgE syndrome (Job syndrome) presentation

A

FATED: coarse Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, elevated IgE, Dermatologic problems e.g. eczema. Decreased IFN-gamma and increased IgE.

64
Q

Chronic mucocutaneous candidiasis defect

A

T-cell dysfunction

65
Q

Chronic mucocutaneous candidiasis presentation

A

Noninvasive Candida infections of skin and mucous membranes

66
Q

Severe Combined Immunodeficiency defect

A

Several types: defective IL-2R gamma chain–most common, X-linked; & adenosine deaminase deficiency, autosomal recessive

67
Q

Severe Combined Immunodeficiency presentation

A

Failure to thrive, chronic diarrhea, thrush; recurrent viral, bacterial, fungal and protozoal infections. Tx: bone marrow transplant–earlier is better, no concern for rejection. Decreased Tcell receptor excision circles (TRECs) picked up on newborn screen; absence of thymic shadow, germinal centers on lymph node biopsy, and Tcells on flow cytometry.

68
Q

Ataxia-telangiectasia defect

A

Defects in ATM gene, failure to repair dsDNA breaks leading to cell cycle arrest

69
Q

Ataxia-telangiectasia presentation

A

Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency. Increased AFP, decreased IgA, IgG, and IgE; lymphopenia and cerebellar atrophy

70
Q

Hyper-IgM syndrome defect

A

Defective CD40L on Th cells resulting in class switching defect; X-linked recessive.

71
Q

Hyper-IgM syndrome presentation

A

Severe pyogenic infections early in life; opportunistic infections with Pneuomocystis, Cryptosporidium, CMV. Normal or elevated IgM; severely decreased IgG, IgA, IgE

72
Q

Wiskott-Aldrich syndrome defect

A

Mutation in WAS gene; T-cells unable to reorganize actin cytoskeleton; X-linked recessive.

73
Q

Wiskott-Aldrich syndrome presentation

A

WATER: Wiskott-Aldrich: Thrombocytopenia, Eczema, Recurrent infections. Increased risk of autoimmune disease and malignancy. Decreased to normal IgG, IgM; increased IgE, IgA; fewer and smaller platelets.

74
Q

Leukocyte adhesion deficiency (Type 1) defect

A

defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive.

75
Q

Leukocyte adhesion deficiency (Type 1) presentation

A

Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days); increased neutrophils but absence of neutrophils at infection site.

76
Q

Chédiak-Higashi syndrome defect

A

Defect in lysosomal trafficking regulator gene (LYST); microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive.

77
Q

Chédiak-Higashi syndrome presentation

A

Recurrent Staph and Strep pyogenic infections, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis; Giant granules in granulocytes and platelets, pancytopenia, mild coagulation defects

78
Q

Chronic granulomatous disease defect

A

Defect of NADPH oxidase resulting in decreased ROSs and decreased respiratory burst in neutrophils; most commonly X-linked recessive

79
Q

Chronic granulomatous disease presentation

A

Susceptibility to catalase positive organisms; abnormal dihydrorhodamine test: enzyme can’t convert dihydrorhodamine to it’s fluorescent form i.e. negative test, nitroblue tetrazolium dye reduction test is negative too.

80
Q

Pemphigus Vulgaris

A

Autoantibodies against desmoglein: a cadherin protein for desmosomes

81
Q

Bullous Pemhigoid and Pemphigoid Gestationis

A

Autoantibodies against integrins: transmembrane anchor proteins for hemidesmosomes (link cells to the basement membrane)

Step 1 (18 decks)

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