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Haem/Onc > Disorders of Leukocytes; Immunology and Immunodeficiency, ASPHO > Flashcards

Disorders of Leukocytes; Immunology and Immunodeficiency, ASPHO Flashcards

1
Q

what are the steps to make a plt?

A

multipotetnial hematpoietic stem cell (hemocytoblast)–> common myeloid progenitor–> megakaryocyte–> plts

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2
Q

what are the steps to make an RBC?

A

hemocytoblast-> common myeloid progenitor–> rbc

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3
Q

what are the steps ot make a mast cell?

A

hemocytoblast-> common myeloid progenitor–> mast cell

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4
Q

what are the steps to make a basophil?

A

hemocytoblast-> common myeloid progenitor–> myeloblast-> basophil

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5
Q

what are the steps to make a neutrophil?

A

hemocytoblast-> common myeloid progenitor–> myeloblast-> neutrophil

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6
Q

what are the steps to make an eosinophil?

A

hemocytoblast-> common myeloid progenitor–> myeloblast-> eosinophil

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7
Q

what are the steps to make a macrophage?

A

hemocytoblast-> common myeloid progenitor–> myeloblast-> monocyte–> macrophage

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8
Q

what are the steps to make a dendritic cell?

A

hemocytoblast-> common myeloid progenitor–> myeloblast-> monocyte–> dendritic cell

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9
Q

what are the steps to make an NK cell?

A

hemocytoblast-> common lymphoid progenitor-> NK cell= large granular lymphocyte

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10
Q

what are the steps to make a t lymphocyte?

A

hemocytoblast-> common lymphoid progenitor-> small lymphocyte-> T-lymphocyte

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11
Q

what are the steps to make a plasma cell?

A

hemocytoblast-> common lymphoid progenitor-> small lymphocyte-> B-lymphocyte-> plasma cell

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12
Q

innate immunity is present from when?

A

birth

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13
Q

how long does it take for the adaptive immune response to kick in?

A

weeks

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14
Q

in innate immunity, phagocytes respond to what? they recognize what?

A

response to pattern recognition receptors; recognized pathogen-associated molecular patterns

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15
Q

activate innate immune system –> what?

A

clinical inflammation (tumor, rubor, calor, dolor)

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16
Q

infection/tissue damage triggers what? (6)

A
  • Toll-like receptors
  • Lipids (PAF)
  • Chemokines (IL-8)
  • Complement (C3a)
  • Kinins
  • Coagulation proteins
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17
Q

Innate immune response includes what two things?

A
  • vascular permeablity

- emigration of phagocytes

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18
Q

adaptive immune repsonse include emigration of?

A

lymphocytes

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19
Q

what are the most abundant circulating phagocytes?

A

neutrophils

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20
Q

what attracts neutrophils?

A

chemokines, cytokines eg: C5a, IL-8

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21
Q

neutrophils phagocytose cells that are tagged with ___ and ____; they then ingest microbes via ____-___ ____

A

C3 and IgG; NADPH-mediated reaction

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22
Q

primary growth factors to grow neutrophils?

A

GCSF

GMCSF

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23
Q

in terms of location of neutrophils, they are either ____ or ____

A

circulation (fewer)

marginating

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24
Q

Neutrophil development:

  1. stem cells
  2. myeloid precursors (what are these? (4)
  3. neutrophils (name these 2)
A

myeloblast-> promyelocyte->myelocyte-> metamyelocyte; band, segmented neutrophils

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25
Q

how long do mobilizing neutrophils live for?

A

9-12 hrs

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26
Q

over a ___ hr period, neutrophils are cleared through ___

A

24; apoptosis

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27
Q

what are the functions of neutrophils as they move through the body?

A
  • Roll along endothelium
  • Adhere to endothelium
  • Diapedesis= travel thru endothelium into tissue
  • Chemotaxis= move toward chemo kines, etc
  • Ingestion= beginning to engulf
  • Phagocytosis= total engulfment
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28
Q

Name 3 receptors/ligands involved in rolling and adherence of neutrophils

A 
Sialyl LeX
L-selectins
B2 integrins (CD11b/CD18)
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29
Q

Name 4 receptors/ligands involved in neutrophil chemotaxis

A

C5a
N-formyl oigopeptides
Lipids (LTB4, PAF)
GMCSF, GCSF, IL8, TNF

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30
Q

Name 3 receptors/ligands involved in neutrophil ingestion

A
  • FCgammaRI, FCgammaRII, FCgammaRIII…binds Ab
  • CD11b/CD18…binds iC3b
  • C receptor 1 (CR-1)…binds C3b/C4b
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31
Q

what are selectins?

A

cell adhesion proteins that bind carbohydrates

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32
Q

L-selectins are found where? involved in what (2)?

A

lymphocytes; involved in lymphocyte homing and inflammation

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33
Q

E-selectins are found where? involved in what?

A

activated endothelium; inflammation

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34
Q

P-selectins are found where (2)? involved in what? (2)

A

Platelets and activated endothelium; inflammation, plt function

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35
Q

What are b2 integrins? what do they include?

A

Transmembrane receptors that facilitate cell-cell and cell-extracellyular matrix interactions; include CD18 and CD11x

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36
Q

Receptor LFA-1 found where? made up of? binds what? (maybe too much info)

A

all leuks; CD11a + CD18; ICAM 1-3

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37
Q

Mac-1= C3 receptor found where?made up of? binds what? (maybe too much info)

A

PMN, monocytes, macrophages, LGL; CD11b_ CD18; ICAM-1, iC3b, fibrinogen

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38
Q

P150,95 receptor found where? made up of what? binds what? (maybe too much info)

A

PMN, monocytes, macrophages, some lymphocytes; CD11c and CD18; iC3b

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39
Q

alpha beta 2 receptor found where? made up of what? binds what? (maybe too much info)

A

1) PMN, monocytes, macrophages, T cells; CD11d + CD18; ICAM-3

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40
Q

mitosis occurs in which of the neutrophil precursors?

A

myeloblast, pro-myelocyte, myelocyte

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41
Q

What types of granules are seen in neutrophiles? (4)

A

Azurophilic
Specific/secondary
tertiary
secretory

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42
Q

Proteinases, defensins, and myeloperoxidase= MPO are found in which type of neutrophil granules?

A

azurophilic

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43
Q

lactoferring, transcobalamin II, lysozyme, plasma membrane protein, and cytochrome b558 are found in which type of neutrophil granules?

A

specific/secondary

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44
Q

CD11b/CD18, FcgammaRIII, gelatinase are found in which types of neutrophil granules?

A

tertiary

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45
Q

serum albumin in found in which type of neutrophil granule? used for what?

A

secretory; spare parts

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46
Q

____ and ___-mediated reactions in neutrophils–> creation of ___ to ___ pathogen

A

NADPH; MPO; acid; kill

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47
Q

13 yo presents with LAD and ANC 900. most likely dx?

a) ALL
b) Viral illness
c) AML

A

Viral illness

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48
Q

Define neutrophenia

A

lower than normal ANC (ANC= bands + segs)

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49
Q

How does neutropenia vary with age?

A

0-1 week: <3000
1 week-2 years <1100
child-adult <1500

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50
Q

other than age, 2 other things that affect ANC?

A
  • Race (African neutropenia <900)

- Altitude: lower ANC above 5000 ft

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51
Q

mild neutropenia is?

A

500-1000

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52
Q

mod neutropenia?

A

250-500

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53
Q

severe neutropenia?

A

<250

54
Q

neutropenia qs on hx?

A

duration, exposure to toxin/drugs, infections, fam hx

55
Q

neutorpenia phys exam?

A

growth curve, signs of inections, mucosal membranes, LAD, hepatosplenomegaly, congen anomalies

56
Q

lab eval for low ANC?

A 
CBC with retic and diff 2x weekly x 6 weeks
peripheral smear
peripheral blood immunophenotype and quant IgGAME
-BMA, BM bx, cytogen
-LDH, uric acid, alk phos
-Anti-neutropehil abs
-Viral studies
-nutrition assessment
-panc function
-skeletal radiograph
-ANA, C3, C4, anti-DNA
-WES
57
Q

causes of acquired neutropenia?

A
  • infections!
  • drug-induced, bactrim, penicillins
  • alloimmune/autoimmune
  • malig
  • stem cell failure for inherited stem cell problems
  • vit defs liek b12, folate, coopper
  • during preg, can get impaired myeloid prolif (preeclampsia)
  • idiopathic
  • PNH
  • mechanical: ECMO/bypass surgery
58
Q

infectoius related neutropenia usually lasts how long?

A

days-months

59
Q

manage infectious related neutropenia how?

A

supportive: treat infections, g-csf in some cases

60
Q

infections taht can –> low ANC?

A

EBV, CMV, influenzae, RSV, parvo, HIV, varicella, measesl, rubella, sepsis in infant, malarai…

61
Q

why do infections cause low ANC?

A

increased utlization, splenic sequestatrion, etc

62
Q

drugs taht lead to low ANC?

A

penicllin, cephalosporin, bactrim, phenothiazine, dilantin, phenobarbital

63
Q

tx low ANC from drugs how?

A

stop drug, in some cases g-csf

64
Q

alloimmune neutorpenia in babies: can present with? would see what on BM? tx how?

A

delayed cord sep; marrow with myelodi hyperplasia with maturation arrest at mature precursors…tx: supportive care, antibiotics, maybe IVIG, can give GCSF if severe infection

65
Q

chornic benign neutropenia of childhood: common mech? age affected? presentation?

A

anti-neutrophila antibody against FcγIIIb receptor….8-11 months…ANC <5000 but generally asymptomatic

66
Q

chornic benign neutropenia of childhood: see what on marrow? resolves when?

A

nromal to increased myeloid series iwth decrease at band/segmented level…resolvles around 20 months

67
Q

chronic benign neutropenia: tx how?

A

observation, evaluate adn treat infections…g-csf may be helpful in patients with infections

68
Q

autoimmune neutropenia can also be associated with what?

A

ITP/Evan’s syndrome, AIHA, other autoimmune diseases

69
Q

autoimmune neutorpenia: see what on marrow?

A

normal concentration with late maturation arrest

70
Q

tx autoimmune neutorpneia how?

A

tx primary disorder; evaluate and tx infections; gcsf may be helpful if marrow storage pool depleted

71
Q

list 3 congen d/o’s of neutorpenia? inheritance and gene?

A

cyclic neutropenia (ELA2, AD), SCN (ELA2, AD), Kostmann syndrome (HAX1, AR)

72
Q

ELA2 encodes what?

A

neutrophil elastase

73
Q

SCN: risk fo what?

A

MDS/AML

74
Q

3 disorders of ribosomes–> low ANC?

A

SDS
DC
FA

75
Q

gene with SDS? inher?

A

SBDS, AR

76
Q

gene with DC?, inherit?

A

DKC1, x-linked

77
Q

3 congential neutropenia disorders with granule/cytotoxic defects?

A

Chediak-Higashi syndrome, Griscelli syndrome type II, hemansky-pudlak syndrome type II

78
Q

gene for chediak-higashi syndrome?

A

LYST/CHS1 (AR)

79
Q

gene for griscelli syndrome type 2?

A

RAB27a (AR)

80
Q

gene for HPS type 2?

A

AP3P1 (AR)

81
Q

features fo CHS?

A

albinism, giant granules in myeloid cells, HLH

82
Q

features of griscelli syndrome?

A

albinism wtih silver hair, HLH

83
Q

features of HPS type 2?

A

cyclic neutroepnia, partial albinism, HLH

84
Q

4 congen disorders of stem cells and precursors?

A

Glycogen storage disease type 1, glucose 6 phopshate catalytic subunit 3 def, barth syndrome (x-linked), pearson syndrome (mitochondrial)

85
Q

disorders iwth low ANC iwth immune defs?

A

CVID, IgA def, SCID, WHIM syndrome, cartiage-hair hyperplasia

86
Q

features of whim syndrome?

A

warts, hypogam, infections, myelokathexis (neutrophils stuck in bone marrow)

87
Q

gene in whim syndrome? inheritance?

A

CXCR4, AD

88
Q

gene is Cartiage-hair hyperplasia?

A

RMRP (AR)

89
Q

chornic idiopathic neutropenia: manage how?

A

supportive care, gcsf for severe infections

90
Q

Leukocyte adhesion def: what happens?

A

make nuetropehils but have absent or impaired ahdersion molecs involved in trafficking

91
Q

clinical features of LAD?

A
  • delayed cord sep
  • recurrent bact infections
  • absent pus
  • impaired wound healing
  • leukocytosis
92
Q

tx LAD how?

A
  • antibiotics at needed, wound care
  • BMT if severe
  • G-CSF/GM-CSF NOT helpful
93
Q

key diffs between LAD-1, 2,3?

A

LAD-1 is AR, involves CD18
LAD-2: SLC35C1 gene…less severe than type 1…associated with RBCs that have no H anitgen= Bombay phenotype…don’t make the carbohydrate needed for integrin
LAD-3: FERMT3 gene…problem with activation rather than manufacturing of integrin

94
Q

mechanism of CHS defect?

A

defect in membrane fusion adn lysosome trafficking…get foramtion of giant, leaky granules

95
Q

clinical featuers of CHS?

A

oculocutaneous albinism, HLH, neurodegeneration

96
Q

tx CHS how?

A

supportive care, immune suppression, BMT

97
Q

specific granule deficiencies in neutropenia: tend to have defect in what?

A

C/EBPs (AR): trx factor needed for expression of specific granule proteins

98
Q

give two featurse of neutrophili degranulation defects…tx how?

A

decreased chemotaxis, mild neutropenia with BI-LOBATED neutrophils, recurrent skin and deep tissue infections…px antibiotics adn supportive care

99
Q

give a neutrophil oxidative metabolism defect…mech?

A

chronic granulomatous disease= defects in phagocyte NADPH oxidase complex

100
Q

CGD inheritance?? gene?

A

most common version in x-linked, CYBB…others are AR

101
Q

CGD: clinical couse?

A
  • recurrent infectious in skin, lung, liver, LN

- Bugs= S. aureus, aspergillus, burkholderia, serraita etc

102
Q

dx CGD how?

A

nitroblue tetrazolium…reduced from yellow to purple by activated neutrophils…or DHR test= better, which is flow-based…fam hx, targed sequencing or WES

103
Q

tx of CGD?

A

ppx with septra and itraconazole…ppx IFN-gamma, BMT

104
Q

MPO def: MPO stands for? gene? inherit? features (3)

A

myeloperoxidase…MPO…AR…not usually prob unless pt has DM; get impaired killing of candida albicans and aspergillus

105
Q

tx for MPO def?

A

antifungals for pts with DM

106
Q

misc neutrophils defect disordres?

A

g6pd def, rac2GTPase def, IRAK4 def

107
Q

impaired macrophage function and atypical myobacteria infection: mutations in what 2 things often?

A

interferon gamma receptor; IL-12 receptor

108
Q

hyper-Ige syndrome, like Job’s syndrome: mutation?

A

STAT3, Aut Dom

109
Q

features of hyper-IGe syndrome?

A

defects in neutrophil chemotaxis, very high Ige, sinopulmonary infections, severe skin infections, abnormal teeth

110
Q

hyper-ige tx?

A

supportive care, antimicrobial ppx, bmt if severe

111
Q

gaucher diseae: mutation?

A

glucocerebroside (GBA, AR)

112
Q

features of gaucher?

A

cytopenias, hepatosplenomeg, abnormal bone, pulmonary invovleemtn

113
Q

dx gaucher disease how?

A

see gaucher cells= crumplbed paper bag in BM or liver bx, absent or decreased enzyme activity, molecular testing

114
Q

tx gaucher how?

A

enzyme repalcement, BMT for severe symptoms

115
Q

neutrophilic leukocytosis ANC >7.7…ddx? 5

A

infection, steroids, sweet syndrome, asplenia, stress, cigarette smoke, CML, JMML, down syndrome (TMD), LAD, chronic heretiary neutrophilia, lab error

116
Q

monocyte luekocytosis monos>800: ddx?

A 
bacterial infection
TB
EBV inefction
AML
CML
bone marrow recovery
117
Q

ddx for high basophils?

A 
myeloprolif cancers
allergic rxn
UC
parasites
TB
etc
118
Q

high eos: mild >1500…mod 1500-5000..severe>5000: what is “hypereosinophlia?”

A

> 1500 x 2 occasions >1 month, marked tissue eosinophilia

119
Q

causes of hypereosinophilia?

A 
MP neoplasm: fusion gene muations activation PDGFRA, PDGFRBeta, FGFR1
meyloid leukemias
atopy
IBD
DRESS
parasites
fungal 
viral infection
high IL-3/-5
GMCSF
120
Q

GATA2 def: clinical features

A

mycobacterial infections, HPV…associted with monosomy 7 MDS
lymphedema + MDS/AML= emberger syndrome
-close follow up for MDS; bmt= cure…better to do efore MDS happens

121
Q

May-Hegglin anomaly: seen waht on smear?

A

Large plt

weird neutrophil with purple circular inclusion within cytoplasm= dohle body

122
Q

splenomegaly ddx

A 
EBV
malig ALL/AML
lymphoporlif d/o: LCH, ALPS, HLH
hemolytic anemia
liver disease/portal htn
sotrage disease like gaucher
space occupying lesion
123
Q

eval for big spleen?

A 
H&P
CBC, retic, smear
LFT
EBV/CMV
cxr, US
124
Q

abnormal spleen size?

A

2 cm below left costal margin

125
Q

Pegler-Huet anomaly:

  • inheritance?
  • smear?
  • gene?
  • clinical?
A
  • AD
  • HYPOseg nuclei in mature neutrophils (bi-lobe, dumbell, peanut shape)
  • LBR gene
  • skeletal defects
126
Q

May-Hegglin anom

  • inher?
  • clinical?
  • what are MYH-realted diseass?
A
  • AD
  • low plts, giant plts, inclusions in peripheral lymphocytes
  • spectrum of phenotypes with muations that can include bleeding, deafness, nephritis, cataracts
127
Q

ALPS: features on p/e?

A

LAD, splenomega

128
Q

dx of alps?

A

double neg T cells increased

129
Q

3 mutatiosn in ALPS?

A

FAS/FASL/CASP10

130
Q

2 features of ALPS not seen on p/e?

A

autoimmuen cytoepnias

elevated b12

131
Q

tx ALPS how?

A

MMF, ritux, IVIG, mTOR inhbiitor…avoid removing spleen

Haem/Onc (30 decks)

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