Inborn errors of immunity : a practical guide / edited by Asghar Aghamohammadi [and more].

Format:

Book

Contributor:

Aghamohammadi, Asghar.

Language:

English

Subjects (All):

Immunologic diseases in children.

Genre:

Electronic books.

Physical Description:

1 online resource

Place of Publication:

London : Academic Press, 2021.

System Details:

text file

Contents:

1 Inborn errors of immunity / Asghar Aghamohammadi and Hassan Abolhassani

1.1 Introduction on inborn errors of immunity p. 1

2 Immunodeficiencies affecting cellular and humoral immunity / Zahra Chavoshzadeh and Sepideh Darougar and Tooba Momen and Hossein Esmaeilzadeh and Hassan Abolhassani and Taher Cheraghi and Mirjam Van Der Burg and Menno Van Zelm

2.1 Approach, to patients with nonsyndromic combined immunodeficiencies p. 9

2.2 Combined immunodeficiencies p. 12

2.3 T - B + severe combined immunodeficiency p. 13

2.4 T - B - severe combined immunodeficiency p. 17

2.5 Combined immunodeficiencies with less profound partial T-cell defects p. 20

2.6 Omenn syndrome p. 21

2.7 Combined immunodeficiencies with hyper-IgM phenotype p. 23

2.8 Major histocompatibility complex class 1 deficiency p. 26

2.9 Other CD8 low combined immunodeficiencies p. 28

2.10 MHC class II deficiency p. 30

2.11 Other CD4 low combined immunodeficiencies p. 32

2.12 Combined immunodeficiency associated with prominent B cells defects p. 34

2.13 Other rare combined immunodeficiencies p. 37

3 Combined immunodeficiencies with associated or syndromic features / Reza Yazdani and Marzieh Tavakol and Ahmad Vosughi Motlagh and Alireza Shafiei and Sepideh Darougar and Zahra Chavoshzadeh and Hassan Abolhassani and Martin Lavin and Hans D. Ochs

3.1 Approach to patients with syndromic combined immunodeficiencies p. 42

3.2 Wiskott-Aldrich syndrome and other congenital thrombocytopenia p. 44

3.3 Ataxia-telangiectasia p. 47

3.4 Nijmegen breakage syndrome p. 50

3.5 Bloom syndrome p. 52

3.6 Immunodeficiency, centromeric instability, facial dysmorphism syndrome p. 54

3.7 Other syndromic combined immunodeficiencies with DNA repair defects p. 56

3.8 Syndromic combined immune deficiencies associated with thymic defects p. 58

3.9 Syndromic combined immunodeficiency associated with immuno-osseous dysplasias p. 61

3.10 Schimke's immuno-osseous dysplasia p. 64

3.11 Hyper IgE syndromes p. 66

3.12 Syndromic combined immunodeficiency associated with metabolic defects p. 70

3.13 Dyskeratosis congenita syndrome p. 73

3.14 Ectodermal dysplasia syndrome p. 76

3.15 Calcium channel defects p. 78

3.16 Purine nucleoside phosphotylase deficiency p. 80

3.17 Hepatic veno-occlusive disease with immunodeficiency p. 82

3.18 Other combined immunodeficiency syndromes p. 84

4 Predominantly antibody deficiencies / Taher Cheraghl and Arash Kalantari and Mahnaz Sadeghi Shabestari and Hassan Abolhassani and Hermann Eibel and Lennart Hammarström and Hirokazu Kanegane and Anne Durandy and Alessanpro Plebani and Charlotte Cunningham-Rundles and Asghar Aghamohammadi

4.1 Approach to patients with predominantly antibody deficiencies p. 94

4.2 X-Linked agammaglobulinemia p. 96

4.3 Mu heavy chain deficiency p. 98

4.4 Kappa chain deficiency p. 99

4.5 Other forms of autosomal agammaglobulinemia p. 100

4.6 Common variable immuno deficiency p. 102

4.7 Activation-induced cytidine deaminase deficiency p. 105

4.8 Uracil N-glycosylase deficiency p. 107

4.9 Mutator S homology2/6 deficiency p. 109

4.10 1NO80 deficiency p. 111

4.11 Specific antibody deficiency p. 112

4.12 IgA with IgG subclass deficiency p. 113

4.13 Isolated IgG subclass deficiency p. 114

4.14 Selective IgA deficiency p. 116

4.15 Selective IgM deficiency p. 118

4.16 Transient hypogammaglobulinemia of infancy p. 120

5 Diseases of immune dysregulation / Hassan Abolhassani and Abbas Dabbaghzadeh and Hamid Ahanchian and Negar Khalighi and Javad Ghaffari and Mohammad Ehlayel and Teresa Espanol and Romina Dieli Crimi and Pilar Llobet Agulló and Tim Niehues

5.1 Approach to patients with diseases of immune dysreguiation p. 125

5.2 Familial haemophagocytic lymphohistiocytosis syndromes p. 128

5.3 Familial haemophagocytic lymphohistiocytosis syndromes with partial albinism and hypopigmentation p. 131

5.4 Regulatory T cell defects p. 135

5.5 Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome p. 136

5.6 CD25 and CD122 deficiency p. 138

5.7 Signal transducer and activator of transcription 3 gain-of-function p. 140

5.8 LRBA and CTLA4 deficiencies p. 141

5.9 Autoimmunity with or without lymphoproliferation p. 143

5.10 Immune dysregulation with colitis p. 146

5.11 Autoimmune lymphoproliferative syndrome p. 148

5.12 Susceptibility to Epstein-Barr virus and lymphoproliferative conditions p. 150

6 Congenital defects of phagocytes / Nima Rezaei and Javad Ghaffari and Abbas Khalili and Abbas Dabbaghzadeh and Negar Ghaffari and Hassan Abolhassani and Mikko Seppänen and Mohammad Ehlayel

6.1 Approach to patients with congenital defects of phagocytes p. 155

6.2 Severe congenital neutropenia p. 158

6.3 Cyclic neutropenia p. 160

6.4 GFI1 deficiency p. 162

6.5 HAX1 deficiency p. 163

6.6 G6PC3 deficiency p. 165

6.7 VPS45 deficiency p. 167

6.8 JAGN1 deficiency p. 169

6.9 Granulocyte colony-stimulating factor receptor deficiency p. 171

6.10 Shwachman-Diamond syndrome-1 p. 172

6.11 Barth syndrome (3-methyiglutaconic aciduria type II) tafazzin deficiency p. 174

6.12 Cohen syndrome p. 176

6.13 Clericuzio-type poikiloderma with neutropenia syndrome p. 178

6.14 Rothmund-Thomson syndrome p. 180

6.15 GATA2 deficiency p. 182

6.16 X-linked neutropenia or WAS gain-of-function p. 184

6.17 Glycogen storage disease type 1b p. 186

6.18 P14/LAMTOR2 deficiency p. 188

6.19 3-Methylglutaconic aciduria type 7 p. 190

6.20 SMARCD2 deficiency p. 191

6.21 Hypoxia upregulated protein 1 deficiency p. 193

6.22 Warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome p. 194

6.23 Serine or threonine-protein kinase 4 deficiency p. 196

6.24 Leukocyte adhesion deficiency p. 197

6.25 Papillon-Lefèvre syndrome p. 199

6.26 WDR1 deficiency p. 201

6.27 RAC2 deficiency p. 203

6.28 Megakaryoblastic leukemia 1 deficiency p. 204

6.29 Cystic fibrosis p. 205

6.30 Chronic granulomatous disease p. 207

6.31 Myeloperoxidase deficiency p. 209

6.32 Glucose-6-phosphate dehydrogenase deficiency (class I/II) p. 211

6.33 Specific granule deficiency-1 p. 212

6.34 Hereditary pulmonary alveolar proteinosis p. 214

7 Defects in intrinsic and innate immunity / Alireza Mahdaviani and Morteza Fallahpour and Farhad Seif and Soheila Alyasin and Hassan Abolhassani and Aziz Bousfiha and Mohamed-Ridha Barbouche and Peter Olbrich

7.1 Approach to patients with defects in intrinsic and innate immunity p. 219

7.2 Mendelian susceptibility to mycobacterial diseases p. 222

7.3 Epidermodysplasia verruciformis p. 224

7.4 Predisposition to severe viral infection p. 227

7.5 Herpes simplex encephalitis p. 229

7.6 Predisposition to mucocutaneous candidiasis p. 233

7.7 Toll-like receptors signaling pathway deficiency with bacterial susceptibility p. 236

7.8 Isolated congenital asplenia p. 238

7.9 Other primary immunodeficiency disorders with defects in intrinsic and innate immunity p. 241

8 Autoinflammatory disorders / Gholamreza Azizi and Saba Arshi and Mohammad Nabavi and Mahnaz Sadeghi Shabestari and Deepti Suri and Sudhir Gupta

8.1 Approach to patients with autoinflammatory disorders p. 245

8.2 Aicardi-Goutieres syndrome p. 248

8.3 ADA2 deficiency p. 250

8.4 Other type 1 interreronopathies p. 252

8.5 Familial Mediterranean fever p. 255

8.6 Mevalonate kinase deficiency (hyper IgD syndrome) p. 258

8.7 PLCγ2 associated antibody deficiency and immune dysregulation p. 260

8.8 NLRP-associated autoinflammatory diseases p. 262

8.9 Cryopyrin-associated periodic syndrome p. 264

8.10 PsAPASH syndrome p. 266

8.11 Tumor necrosis factor receptor-associated periodic syndrome p. 268

8.12 Majeed syndrome p. 270

8.13 Deficiency of IL-1- and IL-36 receptor antagonists p. 272

8.14 Cherubsim p. 275

8.15 Blau syndrome p. 277

8.16 CARD14-mediated psoriasis p. 279

8.17 Chronic atypical neutrophilic dermatitis with lipodystrophy p. 280

8.18 Otulipenia/OTULIN-related autoinflammatory syndrome p. 282

8.19 ADAM17 deficiency p. 283

8.20 SLC29A3 deficiency p. 284

8.21 COPA deficiency p. 286

8.22 AP1S3 deficiency p. 287

8.23 A20, ALPI, TRIM22 and TIM3 deficiencies p. 288

9 Complement deficiencies / Mansoureh Shariat and Marzieh Heydrzadeh and Hassan Abolhassani and Mohammad Hassan Bemanian and Andreza Yazdani

9.1 Approach to complement deficiencies p. 291

9.2 Classical pathway complement defects p. 294

9.3 C1 complex deficiency p. 296

9.4 C3 deficiency and gain-of-function p. 298

9.5 Late acting complement protein deficiencies p. 300

9.6 Hereditary angioedema or C1 inhibitor deficiency p. 302

9.7 Atypical hemolytic-uremic syndrome p. 304

9.8 Factor D deficiency p. 307

9.9 Properdin deficiency p. 308

9.10 Ficolin 3 deficiency p. 309

9.11 Paroxysmal nocturnal hemoglobinuria and membrane-bound regulator deficiencies p. 310

9.12 Mannose-binding lectin deficiency p. 312

9.13 Mannose-binding lectin-associated serine protease 2 deficiency p. 313

9.14 Factor B defects p. 314

10 Phenocopies of inborn errors of immunity / Saba Fekrvand and Hassan Abolhassani and Reza Yazdani and Rainer Doffinger

10.1 Approach to phenocopies of inborn errors of immunity p. 317

10.2 Autoimmune lymphoproliferative syndrome due to somatic mutations in FAS p. 320

10.3 RAS-associated autoimmune leukoproliferarive disease due to KRAS or NRAS somatic mutations p. 322

10.4 Cryopyrinopathy due to somatic mutations in NLRP3 p. 324

10.5 Hypereosinophilic syndrome due to somatic mutations in STAT5B p. 326

10.6 Large granular lymphocytosis due to somatic mutations in STAT3 p. 328

10.7 Phenocopies of chronic mucocutaneous candidiasis p. 330

10.8 Adult-onset immunodeficiency with susceptibility to mycobacteria p. 332

10.9 Phenocopies of recurrent skin infection due to anti-IL-6 autoantibodies p. 334

10.10 Phenocopies of pulmonary alveolar proteinosis p. 336

10.11 Acquired angioedema p. 338

10.12 Phenocopies of atypical hemolytic-uremic syndrome p. 340

10.13 Thymoma with hypogammaglobulinemia (Good syndrome) p. 342

11 Management of inborn errors of immunity / Rasoul Nasirikalmarzi and Mohammad Hossein Eslamiar Hassan Abolhassani and Asghar Aghamohammadi and Lennart Hammarström and Andrew R Gennery

11.1 Approach to management of inborn errors of immunity p. 345

11.2 Antibiotic prophylaxis p. 350

11.3 Immunoglobulin replacement therapy p. 352

11.4 Hematopoietic stem cell transplantation p. 354

11.5 Gene therapy for primary immunodeficiency disorders p. 357

11.6 Newborn screening and vaccine modification p. 359.

Notes:

Includes index.

ISBN:

9780128231890

0128231890

OCLC:

1232509718

Access Restriction:

Restricted for use by site license.