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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_104_библиотеки_им_акад_М_И_Перельмана
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Index 423
https://t.me/med1917
challenges, future 356–357
childhood ALL therapy
ALL subtypes
drug resistance, relapsed ALL
352–353
G6PD deficiency
germline genetic variants
NT5C2 variants
NUDT15 variants
PRPS1 variants
Rasburicase
relapsed ALL, drug resistance
TCF3-HLF ALL therapy
thioguanine (TG)
thiopurine antimetabolites
mercaptopurine (MP)
thiopurine resistance
thiopurine therapy
TPMT variations
tumor lysis syndrome (TLS)
defined 343
human genome variation 344–347
copy number variants (CNVs) 345–346
adverse drug reactions (ADR)
drug-related phenotypes 347
epidrugs 346
epigenetic variations 346
ethnic groups 347
haplotype map
haplotypes 345
immunopharmacogenomics 346
linkage disequilibrium 345
single-nucleotide variants
somatic variations 346
models 347
oral antithrombotic therapy 353–356
cardiovascular diseases (CVDs)
clopidogrel, CYP2C19 variants 355–356
coumarins, CYP2C9 variants 354
coumarins, VKORC1 variants 354–355
warfarin 354
precision medicine 344
principles 344
Vogel, Friedrich 343
phenotypes of thalassemia 12–15
α thalassemias, 12-13
β thalassemias 13–14
therapies 14–15
anemia
environmental mechanisms 14
gene editing 15
gene therapy 15
genetic modifiers 14
pharmacological options 14–15
phenotypic diversity 14
phenotypic diversity 14
Ph-like ALL 74–75
Philadelphia chromosome, CML 85, 95–96
348–350
14
347–353
349
348–350
349
352
350–352
353
352–353
353
350
350
352–353
350–352
350–351
348
346
345
345
353
Philadelphia-negative
plasma cell development
plasma-derived, von Willebrand factor
(VWF)
platelet adhesion disorders
Bernard–Soulier syndrome
(BSS)
GPIbα
253–254
GPIbα monoallelic mutations
GPIbβ monoallelic mutations
GPlb-V-IX complex
GPV
254
platelet-type VWD
platelet aggregation defects
platelet disorders
ADP receptor defects
agonist receptor defects
ATP receptor defects
bleeding disorders 251–252, 253
Chédiak–Higashi syndrome 259
collagen receptor defects 255–256
cytoskeletal defects 260–261
dense (δ) granule defects
giant platelet syndromes 260–261
Glanzmann thrombasthenia
256–257
(GT)
Glycosylation defects
GPVI 255–256
gray platelet syndrome 258
Griscelli syndrome 259
Hermansky-Pudlak syndrome 258
intracellular signaling pathways,
defects
Medich giant platelet syndrome 261
α2β1integrin 255
α-granules defects
αIIbβ3 complex 256
platelet adhesion disorders 252–255
Bernard–Soulier syndrome
(BSS)
GPIbα 253–254
GPIbα monoallelic mutations 254
GPIbβ monoallelic mutations 254
GPlb-V-IX complex 253
GPV 254
platelet-type VWD 254–255
platelet aggregation defects 256–257
platelet function 251
platelet protein polymorphisms 261
platelet secretion defects (storage pool
disease) 258–259
platelet thrombus formation
procoagulant regulation defects 259–260
Quebec platelet disorder 258
resting platelet 253
Scott syndrome 259
Stormorken syndrome 259–260
thrombosis 261
101–102
137–138
224
252–255
252–254
254
254
253
254–255
256–257
251–266
257
257
257
258
261
258
258
252–254
252
transcription factor defects
Wiskott–Aldrich syndrome (WAS)
platelet function
platelet glycoproteins
platelet protein polymorphisms
platelet refractoriness
platelet secretion defects (storage pool
disease)
platelet thrombus formation
platelet-plug formation, VWD
platelet-specific antigens (HPA)
platelet-type VWD
pluripotent, stem cells
polycythemia vera
post-TKI resistance, CML
post-transfusion purpura (PTP)
pox viruses
precision medicine
pregnancy, CML 94
pre-leukemic stem cells 360–361
preventions, GvHD 408–409
primary myelofibrosis
primitive hematopoietic cells (HSCs),
trafficking
bone marrow egress 27
engraftment
homing 25–27
retention 25
pro-apoptotic BH3-only proteins 132
procoagulant regulation defects
259–260
progenitor cells
prognostic features, CLL 133
prognostic models, CML 84–85
progression, MM
propagation, blood coagulation 202
pro-survival BCL2-like proteins 132
protein C 203–206
protein C deficiency
protein S deficiency 209–210
protein serine–threonine kinase
receptors 22–25
prothrombin mutations 210–211
PRPS1 variants, childhood ALL
therapy 353
psoriasis 305
PV 106–107
Pyrimidine 5’-nucleotidase
deficiency 165–166
pyruvate kinase (PK) deficiency 162–163
Quebec platelet disorder 258
R2-ISS 143
RAS abnormalities 141
Rasburicase 348–350
receptor, tyrosine kinases 22
recombinant factors, hemophilia 226–228
251
258–259
254–255
100–101
324
344
25–27
25–27
19, 21
140–143
207–208
261
259
275
261
275–277
252
232
273–274
17, 29
90–92
275
100–101
本书版权归John Wiley & Sons Inc.所有
424 Index
https://t.me/med1917
red blood cell antigens 280
red cell enzymopathies
associated conditions
bone marrow failure (BMF)
syndromes
aplastic anemia (AA)
clonal disorders
metabolism, red cells
paroxysmal nocturnal hemoglobinuria
(PNH)
somatic mutations, AA
enzyme deficiencies, red cells
glucose 6-phosphate dehydrogenase
deficiency (G6PD)
Pyrimidine 5’-nucleotidase
deficiency
pyruvate kinase (PK)
deficiency
GPI-protein structure
inherited BMF syndromes
Diamond-Blackfan anemia
158–160
(DBA)
dyskeratosis congenita (DKC) 156–158
Fanconi anemia (FA)
telomere biology disorders
156–158
(TBD)
inherited GPI deficiency (IGD) 152–153
Reed-Sternberg cell 113
regulation, blood coagulation
regulators, iron 179
relapsed ALL, drug resistance 352–353
replication-competent retrovirus
(RCR)
324
resistance, CML 89–90
resistance immunotherapy 336
response, CML 89
resting platelet
retention, HSCs 25
reticulin deposition 108–
reverse PCR-SSOP 271–272
revised international staging system
(R-ISS) 143
RH genes, HDFN 281
Rh proteins, HDFN 282
Rh system, HDFN 281
RhD immunogenicity, HDFN 282
rhesus (Rh) proteins
rheumatoid arthritis 305
Richter transformation (RT), CLL
134–135
risk stratification, MM 143
RNA therapy, SCD 197–198
Romiplostim 315
RUNX1 41–42
safety, gene therapy 337–339
SCD, see sickle-cell disease
Scott syndrome 259
145–168
145
145–152
145–148, 150
152
149
148–152
150
160–166
163–165
165–166
162–163
153
153–160
153–156
202–206
253
289–290
secondary abnormalities, MM
selection, CML therapy
selective, GvL
self-renewal, hematopoiesis
sequencing-based typing, MHC
serum ferritin
severe combined immunodeficiency (SCID)
severe thrombophilia
sickle-cell anemia, see sickle-cell
sickle-cell anemia pathophysiology
sickle-cell disease (SCD)
Africa
epidemiology
fetal hemoglobin
genetic determinants
genetic risk models
HbA production 195–196
HbF 187, 192–198
HbS allele (HbAS) 187, 191, 194
life expectancy 192
management
mortality 192
pathophysiology 192
RNA therapy 197–198
sickle-cell anemia pathophysiology
side effects, CML therapy 90–92
single-nucleotide variants,
Sjögrens syndrome 305
soluble molecules, immune system
somatic mutations 64–65, 106–108
AA 150
CLL 129–130
somatic variations, pharmacogenomics
sources, stem cells 18
spliceosome genes 43–44
splicing factors, mutations 58–59
stem cells
cellular compartment model 18–19
clinical use 27–31
cobblestone area-forming cells
colony-forming units, spleen (CFU-S)
erythropoiesis 23
functional analysis 29–31
409–410
169–170
of ADA (ADA-SCID)
disease (SCD)
191, 194
189, 191–192
196–197
193–196
pharmacogenomics
17–32
cell-cycle-active drugs 28
exvivo expansion 29
FACS 28
isolation 28–29
magnetic bead columns 28–29
markers, primitive HSCs 28
mobilization 27–28
(CAFCs) 18–19
competitive repopulation assay
30–31
invitro assays 29–30
invivo assays 30–31
140
88
20–21
272
328–329
212
188
187–200
193–196
198–199
188
345
301
346
18
granulocyte macrophage colony-
stimulating factor (GM-CSF) 19
granulopoiesis
hematopoiesis, defined
hematopoiesis, molecular
regulation
cell cycle control
cell-extrinsic regulators
chemokine receptors
cytonkines
hematopoietic control factors
lineage determinations
protein serine–threonine kinase
receptors
receptor, tyrosine kinases
self-renewal
transcription factors
tumor necrosis factor receptor
(TNFR)
Type I cytokine receptors 21–22
Type II cytokine receptors 22
hematopoietic ontogeny
initiating cells (ICs) 18
invitro colony-forming cells
(CFCs)
lineage commitment models
long-term culture-initiating cells
(LTC-ICs)
lymphopoiesis 24
mobilization
multipotent 17
pluripotent 17, 29
primitive hematopoietic cells (HSCs),
trafficking
bone marrow egress
engraftment 25–27
homing 25–27
retention 25
progenitor cells
sources 18
surface markers, primitive hematopoietic
stem cells 28
three-compartment model of
hematopoiesis 18
types 18
unipotent 17
Stormorken syndrome 259–260
stress, autoimmune disorders 308
structure, hemoglobin 2–6
globin gene loci 3–4
globin gene transcription 5
globin RNA 4–5
globin switching 5–6
suicide gene therapy 337–339
surface markers, primitive hematopoietic
stem cells 28
susceptibilities, VTE 211–212
systemic lupus erythematosus (SLE) 305
23–24
17
20–25
20
25
21–25
22–25
20–21
21
25
18
18
27–28
25–27
27
19, 21
21–25
23–24
20–21
22
25–26
19–20
本书版权归John Wiley & Sons Inc.所有
Index 425
https://t.me/med1917
T regulatory cells (Tregs) 303–304
t(11;14)(q13;q32)
t(14;16) (q32;q23)
t(14;20) (q32;q11)
t(4;14) (p16;q32)
80
TAL1
T-ALL subtypes
targeted therapies, autoimmune
disorders
anti-CD20monoclonal antibody
Avatrombopag
B-cell inhibitors
Bruton tyrosine kinase (BTK)
inhibitors
Campath-1H
complement inhibitors
costimulatory blockage
Eltrombopag
Fostamatinib
Helicobacter pylori eradication
neonatal Fc receptor (FcRn) blockade
316
novel immunomodulatory agents
Romiplostim
thrombopoietin receptor agonists
(TPO-RAs)
targeted therapies, CSC 361–365
bone marrow niche 363–364
cell surface antigens
CSC self-renewal 362
CSC survival 362–363
epigenetic modifiers 364–365
LSC dormancy
T-cell activation 303
T-cell lymphomas 123
T-cell tolerance, immune system 302–303
T-cell trafficking, GvHD
T-cells, autoimmune disorders 300–302
T-cells, immune system 300–303
TCF3::HLF 73
TCF3::PBX1 73
TCF3-HLF ALL therapy 353
TCF3-rearranged ALL 73
TCR signaling, immune system 303
Tecartus 329
telomere biology disorders (TBD) 156–158
TET2
45
Th1 response, cytokine profile 301–302
Th2 response, cytokine profile
thalassemia phenotypes 12–15
α thalassemia, 12-13
β thalassemias 13–14
therapies 14–15
anemia 14
environmental mechanisms 14
gene editing 15
gene therapy 15
genetic modifiers 14
139–140
140
140
140
68, 78–80
313–316
314
315
316
316
313–314
316
314–315
315
316
314–315
316
315
315–316
361–362
363
406
301–302
pharmacological options
phenotypic diversity
therapies, AML
therapy, CML
CML-AP
CML-BP
dose schedules
failure
frontline CML therapy
post-TKI resistance
resistance
response
selection
side effects
toxicities
treatment endpoints
thioguanine (TG)
thiopurine antimetabolites mercaptopurine
thiopurine resistance, childhood ALL
thiopurine therapy, childhood ALL
third-generation sequencing, MHC 272
three-compartment model of
thrombomodulin (TM)
thrombophilia 210–216
antithrombin 205, 207
APC 202
factor V 205
FVa
202, 204
FVIIIa 204
FXa 202
initiation, blood coagulation 202
management, thrombophilia
propagation, blood coagulation 202
protein C 203–206
regulation, blood coagulation 202–206
severe thrombophilia
thrombomodulin (TM) 203
venous thromboembolism
antithrombin deficiency 207
APC resistance 206–207
factor V gene mutations 206–207
protein C deficiency 207–208
protein S deficiency 209–210
prothrombin mutations 210–211
susceptibilities, VTE
thrombophilia, severe 212
thrombopoietin receptor agonists
thrombosis 261
tissue damage, autoimmune
TLX1 79–80
TLX3 79–80
48–49
86–95
95
95
93
90
89–90
89
88
90–92
89–90, 93
350
(MP)
350
352–353
therapy
therapy
350–352
hematopoiesis
206–213
(VTE)
(TPO-RAs) 315–316
disorders 308–309
14–15
14
87–88, 93
90–92
88–89
18
203
212–213
212
211–212
T/M MPAL
tolerance, HCT
tolerance, immune system
toxicities, CAR-T cell therapy
B-cell aplasia
coagulopathy
cytokine release syndrome
cytopenias
hypogammaglobulinemia
immune effector cell-associated neurotoxic-
infections
toxicities, CML therapy
TP53 (Tumor protein 53)
TPMT variations, childhood ALL
transcription factor defects
transcription factors, hematopoiesis 21
transcription factors, myeloid
transferrin cycle
transfusional treatment, VWD 244–245
Transfusion Related Acute Lung Injury
transmembrane domain, CAR-T cells
transmembrane segment, AE1 285–286
transplantation 397–412
allogeneic HCT 398
allorecognition
clonal deletion 400–401
graft-versus-host (GvHD) 402–410
graft-versus-leukemia (GvL) 402–405,
hematopoietic progenitor cells
hemopoietic cell transplantation
immunosuppression, HSCT 408
major histocompatibility complex
peripheral regulation 401
separating GvHD and GvL 407–410
tolerance 400–401
78
400–401
302–304
382–384
383
384
(CRS)
382–383
383
383
ity syndrome (ICANS)
383
350–351
therapy
malignancies
(TRALI)
acute GvHD 404–406
chronic GvHD (cGvHD) 405–407
cytokine storm
immunological targets 402
NK-cells 410
preventions 408–409
T-cell trafficking
treatment 408–409
407–410
allografting 404
donor lymphocyte infusions
(DLI) 402–404
immunological targets 402
selective 409–410
tumor-specific T-cells 404
(HPCs) 397
(HCT) 397–401
(MHC) 398
60
177–178
280
398–399
405–406
383
89–90, 93
42–43, 61
261
371
406
本书版权归John Wiley & Sons Inc.所有
426 Index
https://t.me/med1917
transport mechanisms, iron 175–178
treatment, anemia of chronic
172–173
disease
treatment endpoints, CML therapy
treatment, GvHD
treatment, ITP
treatment, myeloid malignancies
AML cytogenetic aberrations
AML with BCR::ABL1 fusion
AML with CBFB::MYH11 fusion
AML with DEK::NUP214 fusion
AML with FUS::ERG
AML with KAT6A::CREBBP
AML with KMT2A rearrangement
AML with MECOM rearrangement
AML with MNX1::ETV6
AML with NPM1::MLF1
AML with NUP98 rearrangement
AML with RBM15::MRTFA fusion
AML with RUNX1::RUNX1T1 fusion
AML with RUNX1T3
(CBFA2T3)::GLIS2
AML, genetic alterations 58
APL with PML::RARA fusion
MDS cytogenetic abnormalities 56
treatment, VWD 243–245
desmopressin 243–244
transfusion 244–245
trisomies
tumor-initiating cells (TICs) 359
tumor lysis syndrome (TLS) 348
tumor microenvironment (TME) 384–387
cytokine signaling, TME
structure 385–386
therapeutic approaches 386
treatment strategies 387
tumor necrosis factor receptor (TNFR)
408–409
312–313
58
139
88–89
55–58
56–58
58
57
57
58
57
58
58
58
58
57
57
58
56–57
384–385
25
tumor-specific T-cells, GvL
tumor suppressors, AML
BCOR (BCL6 corepressor)
TP53 (Tumor protein 53)
WT1 (Wilms tumor 1)
Type 1 diabetes
Type 1 VWD
Type 2 VWD
Type 2A VWD
Type 2B VWD
Type 2M VWD
Type 2N VWD
Type 3 VWD
Type I cytokine receptors
Type II cytokine receptors
unipotent, stem cells
UV radiation, autoimmune disorders
variants, hemophilia
venous thromboembolism (VTE)
antithrombin deficiency 207
APC resistance 206–207
factor V gene mutations 206–207
protein C deficiency
protein S deficiency 209–210
prothrombin mutations 210–211
susceptibilities, VTE 211–212
viral vectors
VKORC1 variants, coumarins,354–355
Vogel, Friedrich
von Willebrand disease (VWD) 231–250
classification 235
genetic defects
autosomal dominant segregation 236
autosomal recessive segregation 236
Type 1 VWD 237–239, 246
305
237–239, 246
239–243
239–241, 246
241, 246
241–243, 246
243, 246
242–243, 246
323–324
343
235–243
404
42–43
43
42–43
43
21–22
22
17
308
221, 223
206–213
207–208
Type 2 VWD
Type 2A VWD
Type 2B VWD
Type 2M VWD
Type 2N VWD
Type 3 VWD
hemostasis
intrinsic coagulation
platelet-plug formation
therapies, new
treatment
desmopressin
transfusional
von Willebrand factor (VWF)
231–234
VWF biosynthesis
VWF gene
VWF pseudogene
VWD, see von Willebrand disease (VWD)
von Willebrand factor (VWF)
VWF biosynthesis
VWF gene 233–234
VWF pseudogene 233
warfarin
354
WHO 2022 classification, myeloid
malignancies
WHO 2022 diagnostic criteria,
MPNs
Wiskott–Aldrich syndrome (WAS)
WT1 (Wilms tumor 1) 43
329
Yescarta
ZNF384-rearranged leukemia
239–243
239–241, 246
241, 246
241–243, 246
243, 246
242–243, 246
231–232
232
232
245–246
243–245
243–244
244–245
234
233–234
233
231–234
234
62–65
100
259
76
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