chapter 6- immune diseases (and immune 12) Flashcards
1
Q
What do defects of RAG-1 and RAG-2 lead to failure of
A
Generation of mature lymphocytes
2
Q
What are the surface markers for NK cells
A
CD16 and CD56
3
Q
What interleukin stimulates proliferation of NK cells
A
IL-15
4
Q
What interleukin activates killing and secretion of IFN_gamma
A
IL-12
5
Q
What cells are considered the first defined innate lymphoid cells
A
NK cells
6
Q
What chromosome are MHC on/HLA
A
Chromosome 6
7
Q
What cells express MHC 1
A
All nucleated cells and platelets
8
Q
What cells express B7
A
APCs
9
Q
What cells express CD28
A
Naive T cells
10
Q
What cytokine induces Th1 subset
A
IFN-gamma, IL-12
11
Q
What cytokine induces Th2 subset
A
IL-4
12
Q
What cytokines induce TH17 subset
A
TGF-beta, IL-6, IL-1, IL-23
13
Q
What do Th1 have host defense against
A
Intracellular microbes
14
Q
What host defense does TH17 have
A
Against extracellular bacteria, fungi
15
Q
What are the prototypic disorders of type 1 hypersensitivity
A
Anaphylaxis; allergies; bronchial asthma
16
Q
What are the prototypical disorders of type 2 hypersensitivity
A
Autoimmune hemolytic anemia; goodpasture syndrome
17
Q
What are the prototypical disorders of type 3 hypersensitivity
A
SLE; some forms of glomerulonephritis; serum sickness; Arthur’s reaction
18
Q
What are the prototypical disorders of type 4 hypersensitivity
A
Contact dermatitis; multiple sclerosis; type 1 diabetes; tuberculosis
19
Q
Role if IL-4 in type 1 hypersensitivity
A
Act on B cells to stimulate class switching to IgE and promotes development of additional Th2 cells
20
Q
What is the role of IL-5 in type 1 hypersensitivity
A
Development and activation of eosinophils
21
Q
What is the role of IL-13 in type 1 hypersensitivity
A
Enhances IgE production and acts on epithelial cells to stimulate mucus secretion
22
Q
What type of hypersensitivity is myasthenia gravis
A
Type 2
23
Q
What is the term for immature self-reactive T and B cells clones that recognize self antigens during their maturation in the thymus or bone marrow are killed or rendered harmless
A
Central tolerance
24
Q
What is the role of AIRE gene
A
Stimulates expression of some peripheral tissue restricted self antigens in the thymus and is critical for deletion of immature T cells specific for these antigens
25
What are the immune privileged sites
Testis, eyes, brain
26
What is HLA-B27 associated wth
Ankylosing spondylitis
27
What is HLA-BW47 associated with
21-hydroxylase deficiency
28
What is HLA-A associated with
Hereditary hemochromatosis
29
What is NOD2 polymorphisms associated with
Crohn disease
30
What diseases does IL23R have association with
IBD, PS, AS
31
What is teh normal role of IL23R
Receptor for TH17-inducing cytokine IL-23; may alter differentiation of CD4+ T cells into pathogenic TH17 effects cells
32
What is the role of CTLA4
Inhibits T cell responses by terminating activation and promoting activity of Treg cells; may interfere with self-tolerance
33
What diseases is PTPN22 associated with
Rheumatoid arthritis, type 1 DM
34
What is the hallmark of SLE
Production of autoantibodies
35
What antibodies are diagnostic for SLE
Antibodies to dsDNA and smith antigen
36
Describe class 1 renal SLE
Minimal mesangial; immune complexes in mesangium
37
Describe class 2 renal SLE
Mesangial proliferation with accumulation of mesangial matrix
38
Describe class 3 SLE
Focal; affected glomeruli may exhibit swelling and proliferation of endothelial and mesangial cells associated with leukocyte accumulation, capillary necrosis, hyaline thrombi
39
Describe class 4 renal SLE
Diffuse
40
Describe class 5 renal SLE
Membranous
41
Describe class 6 SLE
Advanced sclerosing
42
Describe the chronic discoid form of lupus
Skin manifestations without systemic usually; positive ANA but usually no anti-DS-DNA antibodies
43
Describe subacute cutaneous lupus
Skin lesions widespread, superficial and not scarring; mild systemic symptoms; anti-SS-A antibodies; HLA-DR3
44
What drugs can induce drug induced lupus
Hydralazine, procainamide
45
Describe drug induced lupus
Positive ANA; no renal or CNS involvement; anti-histone antibodies; HLA-DR4
46
What antibodies are seen with sjogren syndrome
Anti-SS-A (ro) and anti-SS-B (la) antibodies
47
What is typically biopsied for diagnosis of sjogren syndrome
Lip (to examine minor salivary gland)
48
What is the term for chronic inflammation, widespread damage to small blood vessels, progressive interstitial and perivascular fibrosis in the skin and multiple organs
Systemic sclerosis (scleroderma)
49
Describe diffuse scleroderma
Widespread skin involvement at onset, with rapid progressive and early visceral involvement
50
Describe limited scleroderma
Skin involvement is confined to fingers, forearms, and face
51
What is CREST syndrome
Calcinosis, raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia
52
What antibodies do you see with scleroderma
Anti-Scl 70 antibodies, anticentromere antibody
53
What are the distinctive features of scleroderma
Striking cutaneous changes, notably skin thickening
54
Describe the direct pathway of cellular rejection
T cells recognize allogeneic MHC molecules on the surface of APCs in the graft, major pathway in acute cellular rejection
55
Describe indirect pathway of cellular rejection
T cells recognize MHC antigens after they are presented by the recipients APCs, more important in chronic rejection
56
Describe type 1 LAD
Defect in biosynthesis of beta2 chain shared by LFA1 and Mac-1 integrins
57
Describe type 2 LAD
Caused by absence of sialyl-Lewis X, the fucose-containing ligand for E- and P-selections
58
What is the major clinical problem in both types of LAD
Recurrent bacterial infections due to inadequate granulocytes function
59
What disorder is AR that is characterized by defective fusion of phagosomes and lysosomes, resulting in defective phagocytes function and susceptibility to infections
Cherish-hiashi syndrome
60
What does defects in TLR3 result in
Recurrent herpes simplex encephalitis
61
What is defects in MyD88 associated with
Issues with destruction of bacterial pneumonia
62
What does deficiency of C1 inhibitor lead to
Hereditary angioedema
63
What is the defect in chronic granulomatous disease
Decreased oxidative burst
64
How do infants present with SCID
Thrush, diarrhea, FTT, morbilliform rash
65
What is mutations in X-linked agammaglobulinemia
Btk
66
What chromosome is Btk located on
Chromosome 21
67
What recurrent bacterial infections are most common with X-linked agammaglobulinemia
Respiratory tract: H. Influenzae, strep pneumo, staph aureus
68
What is mutated in Hyper-IgM syndrome
Gene encoding CD40 or activated induced delaminates
69
What is the abnormality in common variable immunodeficiency
BAFF or ICOS
70
What type of infections are recurrent in common variable immunodeficiency
Sinopulmonary pyogenic infection
71
What are people with X-linked lymphoproliferative syndrome unable to eliminate
EBV
72
What gene is mutated in X-linked lymphoproliferative syndrome
SAP
73
What are defects in Th1 associated with
Atypical mycobacterial infections
74
What is defective in job syndrome
TH17
75
How is Wiskott-Aldrich syndrome hereditary
X_linked recessive
76
What is teh clinical presentation of wiskott Aldrich syndrome
Thrombocytopenia, eczema, marked vulnerability to recurrent infection
77
What is mutation. In wiskott Aldrich syndrome
WASP gene at Xp11.23
78
Describe Ig levels in Wiskott-Aldrich syndrome
IgM levels in serum are low but IgG is normal; levels of IGA and IgE are often elevated
79
What lymphomas are individuals with wiskott Aldrich more prone to
B cell lymphomas
80
How is ataxia telangectias hereditary
AR
81
What Ig are mainly defectively produced with ataxia telangectasia
IgA and IgG2
82
What chromosome is the gene responsible for ataxia telangectasia on
11
83
What should you think of with apple-green birefringence
Amyloidosis
84
describe Ig levels with common variable immune deficiency
low IgG, IgA; normal/low IgM
85
what type of bacteria specifically are individuals with wiskott-aldrich more prone to
encapsulated
86
what is the most common form of skin
common gamma chain deficiency
87
what type of infections are seen most with common gamma chain deficiency SCID
opportunistic fungal infections, chronic diarrhea, skin/mouth/throat lesions
88
what is the clinical phenotype of ZAP70 deficiency
decreased numbers of CD8+ T cells, normal or decreased number of CD4+ T cells, and severe recurrent infections
89
what is the clinical phenotype of HIGM1
pneumocystis carinii pneumonia, pyogenic infections, nora or increased level of IgM, and low level or absent IgG/IgA/IgE
90
what is the biochemical cause of CGD
deficiency of NADPH oxidase in phagocytes
91
what infections are people with CGD most susceptible to
recurrent infection with catalase-positive organisms (staphylococci)
92
what activity is absent in chediak-higashi syndrome
NK activity
93
what immune disease has partial albinism as diagnostic criteria
chediak-higashi syndrome
94
what immune deficiency should you associated with delayed detachment of umbilical cord
leukocyte adhesion deficiency
95
what neutrophil adhesion molecules are involved in LAD
CD11 and CD18
96
what is factor H deficiency associated with
atypical hemolytic uremic syndrome and glomerulonephritis
97
what is C1 esterase inhibitor deficiency associated with causing
hereditary angioedema
98
defects in decay-accelerating factor are seen in patients with what diagnosis
paroxysmal nocturnal hemoglobinuria
99
what protein level is an indictor of HIV progression
p24
100
what STD do people with SLE sometimes test positive for
syphilis
101
what is the role of LTR in HIV infection
integration of viral DNA into host genome; binding site for transcription factors
102
what is the role of Gag in HIV infection
nuclear import of viral DNA
103
what is the role of pol in HIV infection
encodes variety of viral enzymes
104
what is the role of Vif in HIV infection
overcomes inhibitory effects of host cell factors
105
what is the role of Vpr in HIV infection
promotes infection of macrophages by regulating nuclear import of HIV reintegration compelx
106
what is the role of tat in HIV infection
promotes cells cycly arrest and enhances integrated viral DNA transcription
107
what is the role of rev in HIV infection
inhibits viral RNA splicing and promotes export of incompletely spliced viral RNA
108
what is the role of Vpu in HIV infection
promotes CD4 degradation and influences vision release
109
what is the role of env in HIV infection
cleaved into gp120, which mediates CD4 and chemokine receptor bindind and gp 41 which mediates fusion
110
what is the role of nef in HIV infection
promotes downreg of surface CD4 and class 1 MHC expression; blocks apoptosis; enhances vision infectivity
