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
Anti-Jo-1
Polymyositis, Dermatomyositis
26
Anti-SRP
Polymyositis, Dermatomyositis
27
Anti-Mi-2
Polymyositis, Dermatomyositis
28
Antimicrosomal
Hashimoto thyroiditis
29
Antithyroglobulin
Hashimoto thyroiditis
30
Antimitochondrial
Primary Biliary Cirrhosis
31
Antinuclear
SLE, nonspecific
32
Antiparietal cell
Pernicious anemia
33
Antiphospholipase A2 receptor
Primary membranous nephropathy
34
Anti-Scl-70
Scleroderma (diffuse)
35
Anti-DNA topoisomerase 1
Scleroderma (diffuse)
36
Anti-smooth muscle
Autoimmune hepatitis Type 1
37
Anti-SSA
Sjögren syndrome
38
Anti-SSb
Sjögren syndrome
39
Anti-Ro
Sjögren syndrome
40
Anti-La
Sjögren syndrome
41
Anti-TSH receptor
Graves disease
42
Anti-U1 RNP (ribonucleoprotein)
Mixed connective tissue disease
43
Voltage-gated calcium channel antibodies
Lambert-Eaton syndrome
44
IgA anti-endomysial
Celiac disease
45
IgA anti-tissue transglutaminase
Celiac disease
46
MPO-ANCA
Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
47
p-ANCA
Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
48
PR3-ANCA
Granulomatosis with polyangiitis (Wegener)
49
p-ANCA
Granulomatosis with polyangiitis (Wegener)
50
Rheumatoid factor (IgM Ab that targets IgG Fc region)
Rheumatoid arthritis
51
Anti-CCP
Rheumatoid arthritis (more specific)
52
Bruton Agammaglobulinemia defect
Defect in BTK, a tyrosine kinase gene, no B-cell maturation. X-linked recessive
53
Bruton Agammaglobulinemia presentation
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
Selective IgA deficiency defect
Most common primary immune deficiency. Decreased IgA with normal IgG and IgM levels
55
Selective IgA deficiency presentation
Majority Asymptomatic. Can see Airway and GI infections (secretory mucosa), Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.
56
Common variable immunodeficiency defect
Defect in B-cell differentiation. Can be acquired in 20s-30s. Many causes?
57
Common variable immunodeficiency presentation
Increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections. Decreased plasma cells and immunoglobulins.
58
DiGeorge syndrome defect
22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches resulting in absent thymus and parathyroids.
59
DiGeorge syndrome presentation
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
IL-12 receptor deficiency defect
Decreased Th1 response. Autosomal recessive.
61
IL-12 receptor deficiency presentation
Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine. Decreased IFN-gamma.
62
Hyper IgE syndrome (Job syndrome) defect
Deficiency of Th17 cells due to STAT3 mutation resulting in impaired recruitment of neutrophils to sites of infection.
63
Hyper IgE syndrome (Job syndrome) presentation
FATED: coarse Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, elevated IgE, Dermatologic problems e.g. eczema. Decreased IFN-gamma and increased IgE.
64
Chronic mucocutaneous candidiasis defect
T-cell dysfunction
65
Chronic mucocutaneous candidiasis presentation
Noninvasive Candida infections of skin and mucous membranes
66
Severe Combined Immunodeficiency defect
Several types: defective IL-2R gamma chain--most common, X-linked; & adenosine deaminase deficiency, autosomal recessive
67
Severe Combined Immunodeficiency presentation
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
Ataxia-telangiectasia defect
Defects in ATM gene, failure to repair dsDNA breaks leading to cell cycle arrest
69
Ataxia-telangiectasia presentation
Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency. Increased AFP, decreased IgA, IgG, and IgE; lymphopenia and cerebellar atrophy
70
Hyper-IgM syndrome defect
Defective CD40L on Th cells resulting in class switching defect; X-linked recessive.
71
Hyper-IgM syndrome presentation
Severe pyogenic infections early in life; opportunistic infections with Pneuomocystis, Cryptosporidium, CMV. Normal or elevated IgM; severely decreased IgG, IgA, IgE
72
Wiskott-Aldrich syndrome defect
Mutation in WAS gene; T-cells unable to reorganize actin cytoskeleton; X-linked recessive.
73
Wiskott-Aldrich syndrome presentation
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
Leukocyte adhesion deficiency (Type 1) defect
defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive.
75
Leukocyte adhesion deficiency (Type 1) presentation
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
Chédiak-Higashi syndrome defect
Defect in lysosomal trafficking regulator gene (LYST); microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive.
77
Chédiak-Higashi syndrome presentation
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
Chronic granulomatous disease defect
Defect of NADPH oxidase resulting in decreased ROSs and decreased respiratory burst in neutrophils; most commonly X-linked recessive
79
Chronic granulomatous disease presentation
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
Pemphigus Vulgaris
Autoantibodies against desmoglein: a cadherin protein for desmosomes
81
Bullous Pemhigoid and Pemphigoid Gestationis
Autoantibodies against integrins: transmembrane anchor proteins for hemidesmosomes (link cells to the basement membrane)