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board review book > immunologic disorders > Flashcards

immunologic disorders Flashcards

1
Q

HAE genetics

A

AD, C1 inhibitor gene SERPING1 on chromosome 11

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2
Q

rash associated with HAE type 1 and 2

A

erythema marginatum

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3
Q

HAE with low C4 and low C1INH function and level

A

type 1

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4
Q

HAE with low C4 and C1INH function with normal to high C1INH level

A

type 2

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5
Q

decreased in all acute HAE attacks

A

C2

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6
Q

these complement components are only low in acquired C1-INH deficiency

A

C1q and C3

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7
Q

how do attenuated androgens help HAE

A

induce hepatic synthesis of C1 INH

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8
Q

HAE treatment increases PTT

A

plasma kalikrein ihnhibitors (ecallantide and lanadelumab0

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9
Q

congenital neutropenia AD mutation

A

elastase

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10
Q

XLA gene

A

BTK

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11
Q

hyper IgM phenotype with no germinal centers

A

CD40L deficiency

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12
Q

hyper IgM phenotype with no T cell defect, have germinal centers

A

AID deficiency

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13
Q

SCID T- B- NK- (3 types)

A

ADA deficiency (deaf), activated Rac2 defect, reticular dysgenesis

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14
Q

SCID T- B+ NK-

A

IL2RG gene (yc deficiency) and Jak3 deficiency; note B cells present but not functional

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15
Q

SCID T-B+ NK+

A

IL7Ralpha, CD3 epsilon (no gamma delta T cells), CD45, coronoin-1A deficiency

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16
Q

T-B- NK+

A

cernunnos/XLF deficiency (microcephaly, bird like face); Artemis/DCLRE1C deficiency (no microcephaly)

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17
Q

has 13x more ADA than anywhere else in body

A

thymus

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18
Q

ADA deficiency mechansim

A

excess dATP inhibits ribonucleotide reducatase

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19
Q

missense mutations in RAG genes, erythroderma (T cells go to skin), FTT, protracted diarrhea, enlargement of spleen liver lymph nodes, Eosinophilia with lack of B cells but enlarged lymph nodes (proliferation of oligoclonal T cells)

A

Omenn syndrome

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20
Q

STAT3 LOF

A

Hyper IgE type 1/Job

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21
Q

AD phagocytic cell disorder with increased susceptibility to Mycobacteria, low B, NK and monocytes

A

GATA2 deficiency

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22
Q

complement deficiency inherited X-linked (rest AD)

A

properdin deficiency

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23
Q

2 diseases with normal CH50 but absent AH50

A

properdin deficiency and Factor D deficiency

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24
Q

associated with HSV encephalitis

A

TLR3 deficiency (TLR3, TRAF3, TRIF, TBK1, UNC93B1)

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25
Q

TLR3,7,8,9 recognize -

A

viruses

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26
Q

TLR 1, 2, 4, 5, and 6 recognize

A

extracellular microbial components

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27
Q

mature T cells in absence of costimulation

A

anergy

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28
Q

T cell suppression mechanism

A

activated T cells express CTLA-4 and PD-1 after prolonged stimulation

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29
Q

T cells encounter that encounter self-antigen without costimulation, mitochondrial pathway

A

pro-apoptotic protein Bcl-2-like protein 11 (Bim) pathway, deleted

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30
Q

T cells encounter that encounter self-antigen without costimulation, death receptor pathway

A

epeated T cell stimulation increases the expression of the death receptor Fas and its ligand ‘Fas-ligand’ on T cells. When adjacent T cells have engagement of Fas to Fas-ligand, apoptotic cell death occur

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31
Q

CTLA4 on activated and regulatory T cells binds

A

CD80 and 86 B71 and 2 (suppresses further T cell activation)

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32
Q

LFA-1 (CD11a/18) expressed on

A

leukocytes

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33
Q

selectins expressed on

A

endothelium

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34
Q

sialyl-LewisX ligands (CD15a) expressed on

A

leukocytes

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35
Q

integrins

A

LFA-1 and Mac-1

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36
Q

LAD-1

A

delayed umbilical cord separation; omphalitis, no pus formation; LFA-1 (CD11a), Mac-1 (CD11b), LOW cd18

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37
Q

LAD-II

A

no delayed umbilical cord separation; pus impaired but not absent, Bombay (hh) blood group, mutation of FUCT1 (fucosylation), absence of CD15a (sialyl lewis), short stature, developmental delayed, facial dysmorphism

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38
Q

LAD III

A

delayed umbilical separation, no pus, severe bleeding disorder, NORMAL CD18, CalDAG-GEF-1 mutation

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39
Q

decrease B and NK cells with monocytopenia, susceptibility to mycobacteria

A

GATA2 deficiency

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40
Q

IgG long half life due to

A

FcRN (neonatal Fc receptor)

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41
Q

bare lymphocyte syndrome

A

TAP protein deficiency

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42
Q

receptor and ligand that activate and maintain memory and effector T cells

A

ICOS and ICOS-ligand

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43
Q

recptor and ligand to activate naive T cells

A

CD28 on T cells plus B71,2 (CD80,86) on APCs

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44
Q

p-i concept

A

medication directly interacts with either the major histocompatibility complex (MHC) molecule or the T-cell receptor (TCR) molecule to stimulate an immune response. These hypersensitivity responses are primarily T-cell mediated rather than antibody mediated reactions. In addition, they do not require a sensitization phase and therefore can occur with the first exposure to the drug.

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45
Q

aspirin exacerbated respiratory disease or vancomycin induced “red man syndrome” due to activation of Mas-related G-protein coupled receptor X2 (MTGPRX2) and subsequent mast-cell degranulation.

A

“pseudo allergic reaction”

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46
Q

FcγRIIIA

A

expressed on the NK cell which mediates antibody-dependent cell-mediated cytotoxicity

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47
Q

cytokines for class switching to IgE

A

IL-4 and IL-13 (IL-5 class switch to IgA)

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48
Q

generalized erythroderma, scaly rash, generalized lymphadenopathy, hepatosplenomegaly and chronic diarrhea, increased CD45RO+

A

Omenn’s syndrome

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49
Q

functionally like Th2 cells but lack T cell antigen receptors. secrete IL-4, IL-5, IL-9, IL-13, and GM-CSF

A

ILC2 cells

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50
Q

ILC2s express

A

GATA3

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51
Q

coreceptor is expressed on B cells and facilitates the binding of the B cells to the microbe to enhance B-cell receptor (BCR) signaling that leads to proliferation and differentiation of B cells.

A

CR2/CD21 recognizes the complement breakdown products of C3b (iC3b, C3d, and C3dg) covalently bonded to the microbial antigen.

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52
Q

B cells engage with microbes through 2 receptors

A

CR2/CD21 and BCR

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53
Q

During an immune response, eosinophils are recruited to the site of tissue inflammation by

A

chemokine eotaxin-1 (CCL11) which binds to the chemokine receptor CCR3 expressed on the eosinophils

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54
Q

In T-dependent B-cell activation, which of the following receptor and ligand interactions induces B-cell proliferation and differentiation?

A

interaction of CD40 expressed on B cells and CD40L expressed on the T cells induces B-cell activation and differentiation

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55
Q

lipid mediators produced by mast cells

A

PGD2, LTB4,C4,D4,E4

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56
Q

lipid mediators produced by eosinophils

A

PGE2, LTC4,D4,E4

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57
Q

primary granules eosinophils

A

charcot leyden crystals

58
Q

neutrophil chemokine that promotes migration

A

IL-8

59
Q

gain of function mutation in CXCR4

A

WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome, where patients develop peripheral neutropenia because of accumulation of mature neutrophils in the bone marrow (myelokathexis).

60
Q

transcription factor is most associated with T helper type 2 (TH2) cells?

A

STAT6 and GATA3

61
Q

transcription factor associated with Th1 cells

A

STAT4 and Tbet

62
Q

transcription factor associated with th17 cells

A

RORgammaT, STAT3

63
Q

Transcription factors Treg

A

FOXP3, STAT5

64
Q

chemokine associated with mast cell, eosinophil and basophil recruitment

A

CCR3

65
Q

IgG autoantibodies to desmoglein 1 and 3, nikolsky sign, flaccid>tense bullae,

A

pemphigus vulgaris

66
Q

urticaria-like pruritic skin lesions that progress to tense blisters, IgG to BP180 and BP230

A

bullous pemphigoid

67
Q

antigen sampling cells in the GALT

A

M (microfold) cells

68
Q

chronic urticarial rash which may bruise or become purpuric and hypocomplementemia. Minor manifestations include a biopsy which demonstrates a leukocytoclastic vasculitis; arthralgia and/or arthritis; uveitis, episcleritis, and /or conjunctivitis; proteinuria, hematuria, renal insufficiency, and/or glomerulonephritis; abdominal pain, nausea, vomiting, and/or diarrhea; and positive Anti-C1q antibodies; COPD 50%

A

HUVS

69
Q

hair stylist contact derm

A

Paraphenylenediamine

70
Q

initial screening test to detect homozygous deficiencies in the classical complement pathway

A

CH50

71
Q

any homozygous deficiency of one of the classical complement components results in an undetectable

A

CH50

72
Q

slightly low CH50

A

heterozygous C2 deficiency

73
Q

major criteria for SM

A

biopsy with multifocal dense infiltrates of mast cells (>15 mast cells in aggregate)

74
Q

hyper IgE syndrome with low TRECs, lymphocytopenic

A

AR-DOCK8

75
Q

hyper IgE with pneumatocele, coarse facial features, delayed teeth, connective tissue sequelae

A

STAT3 AD/JOb

76
Q

periodic fevers lasting 12-72 hours associated with abdominal pain, chest pain, arthritis, or rash. main long-term concern is the development of amyloidosis in about 10% of patients

A

FMF- mutation of MEFV gene coding for pyrin, AR, colchicine treatment of choice

77
Q

vaccine with egg

A

yellow fever

78
Q

vaccine with gelatin

A

MMR, varicella zoster, rabies, yellow fever

79
Q

vaccine with yeast

A

hep B

80
Q

most common genetic abnormality in PCD

A

DNAH5 gene mutations on chromosome 5p15.2 cause approximately 50% of outer dynein arm defects

81
Q

treatment for MCAS with elevated urinary 11B-PGF2alpha

A

aspirin

82
Q

APS-1/APECED

A

AIRE gene mutation, lymphocytes not deleted or tolerized to endocrine self-antigen

83
Q

IPEX syndrome

A

Fox p3 mutation

84
Q

T reg CD m arkers

A

CD4, CD25

85
Q

cytokines for T reg survival

A

IL-2 and TGF beta

86
Q

intrinsic mitochondrial apoptosis

A

activated Bim binds Bax and Bak which oligermize and insert into outer mitochondrial membrance (used by B and T cells)

87
Q

extrinsic apoptosis pathway

A

Fas:FasL signals through the caspase system
FasL(CD95) upregulated on repeatedly activated T cells

88
Q

ALPS mutation

A

mutation in Fas or caspase 10, lymphocytes dont’ know when to die LAD, spleomegaly, lymphoma, and lack of tolerance can produce autoimmunity (cytopenia) double nefative T cells

89
Q

earliest B cell lineage the produces Ig

A

pre-B cell

90
Q

most variable part of Ig molecule

A

CDR3

91
Q

Ig subtype that fixes complement most effectively

A

IgM

92
Q

shortest half life of all IgG subclasses

A

IgG3

93
Q

IgE that binds with highest affinity

A

IgE

94
Q

IG with highest total body concentration

A

IgA

95
Q

ig wtih highest plasma concentration

A

IgG

96
Q

changes Ig from transmembrane to secretory form (doesn’t change antigen specificity)

A

alternative splicing

97
Q

stimulates isotype switching to IgA

A

TGFbeta and IL-5

98
Q

dominant antibody in breast milk

A

IgA

99
Q

receptor that explains long half life of IgG

A

FcRn found on phocyte cellular membranes

100
Q

VDJ recombination creates

A

TCR diversity

101
Q

components of TCR complex

A

TCR, CD3, and two zeta chains , ITAMs required for signal transduction

102
Q

T cells that are not HLA restricted

A

gamma delta T cells

103
Q

antigen NKT cells recognize

A

lipids in context of CD1

104
Q

T cell receptor that binds B71, 2 (CD80 and 86)

A

CD28

105
Q

most important cytokine produced during T cell activation is

A

IL-2 and CD25

106
Q

disorder where cannot organize immunologic synapse and polarize T cells

A

WAS

107
Q

effector T cells CD marker

A

CD45RA

108
Q

memory T cells CD marker

A

CD45RO

109
Q

APC and T cell co stim receptors involved in class swtiching

A

ICOSL and ICOS (T) and CD40 and CD40L (T)

110
Q

SCID with no CD8 cells and no T lymphocyte function but normal B and NK cells

A

Zap-70 deficiency (associated with CD3 zeta chains) and phosphorylates ITAMs

111
Q

BCR components

A

Igalpha beta heterodimer, CD19, CR2 (CD21), CD81 (TAPA-1)

112
Q

CCL11

A

eotaxin

113
Q

inability to encode the beta subunit of LFA-1 and MAC-1. It is an autosomal recessive inherited deficiency in the CD18 gene

A

type 1 LAD

114
Q

Lack of the Golgi GDP-fructose transporter needed to express the carbohydrate ligands for E- selectin and P-selectin

A

type 2 LAD

115
Q

protein that binds S1PR1 and reduces its cell surface expression. This prevents the naïve T cell from migrating from the lymph node to the blood, where the concentration of S1P is higher.

A

CD69

116
Q

promotes the movement of B cells into the white pulp in response to CXCL13

A

CXCR5

117
Q

plays a critical role in dendritic cell migration into the lymph nodes and is expressed at high levels on naïve T-cells to promote their interaction?

A

CCR7

118
Q

cellular membrane TLRs

A

1, 2, 4, 5, 6.

119
Q

genetic deficincy in UNC93b results in

A

HSV encephalitis; NC-93B is a protein on the endoplasmic reticulum required for endosomal localization and proper function of TLR 3, 7, 8 and 9.

120
Q

used to treat cryopyrin-associated periodic syndrome (CAPS)
Muckle-Wells, NOMID, FCAS are due to a mutation in NLRP3 (aka cryopyrin),

A

IL-1 and IL-1R antagonists, canakinumab and anakinra respectively, can be used to treat these disorders as IL-1 is generated from pro-IL-1β in the NLRP3 inflammasome.

121
Q

flexibility of the antibody is mainly due to the hinge regions located between ***domains, which permit independent movement of antigen binding sites relative to the rest of the molecule.

A

CH1 and 2 domains

122
Q

where in lymph node does affinity maturation occur

A

germinal center

123
Q

increases expression of FcγRIIB and binds to this receptor. It delivers inhibitory signals to B lymphocytes and myeloid cells leading to decreased antibody production and dampened inflammation.

A

IVIG

124
Q

Chemokines work through

A

GPCRs

125
Q

increases eosinophil apoptosis

A

IL-4

126
Q

eosinophil primary granule

A

Charcot Leyden crystal

127
Q

used to detect presence of eosionophils in tissue even when not seen on biopsy

A

major basic protein

128
Q

stimulates eosinophils

A

GMCSF, IL-3, IL-5

129
Q

eosinophil transcription factor

A

GATA1

130
Q

eosinophils migrate to tissue in response to

A

RANTES (CCL-5_ and eotaxin (CCL-11, CCL-24)

131
Q

immune deficiency with eosinophilia

A

hyper IgE syndrome, Omenn syndrome, FoxP3, Zap70, Netherton syndrome

132
Q

basopihl cytokine

A

IL3 receptor CD123

133
Q

monocyte CD marker

A

CD14 (component of TLR4 and LPS receptor)

134
Q

highly expressed CD marker on monocytes and macrophages

A

CD14

135
Q

cytokines secreted by macrophages

A

TNF alpha, IL-1, and IL-6

136
Q

plasmacytoid DC marker

A

CD123 (no CD11, all other types have), fight viral infections

137
Q

dendritic cells with birbeck granules

A

langerhans

138
Q

GM-CSF and IL-4 stimulate

A

dendritic cells

139
Q

attracts neutrophils to tisseu

A

IL-8 (CXCL8) and LTB4

140
Q

neutrophil primary granules enlarged

A

Chediak Higashi syndrome

141
Q
A

board review book (5 decks)

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