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Encyclopedia of Medical Immunology

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Table of Contents

  1. Altmetric Badge
    Book Overview
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    Chapter 15 λ5 Deficiency
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    Chapter 37 IgG Subclass Deficiency and Specific Polysaccharide Antibody Deficiency (SPAD)
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    Chapter 53 Predisposition to Severe Viral Infection, MCM4 Deficiency
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    Chapter 69 Clinical Presentation of Immunodeficiency, Primary Immunodeficiency
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    Chapter 72 Evaluation of Suspected Immunodeficiency, Humoral
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    Chapter 136 Glycogen Storage Disease Type 1b
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    Chapter 145 Papillon-Lefèvre Syndrome
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    Chapter 150 Elastase Deficiency, Severe Congenital Neutropenia (SCN) 1
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    Chapter 156 Barth Syndrome
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    Chapter 198 IRF3 Deficiency
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    Chapter 300003 AD-HIES
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    Chapter 300004 AIFEC
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    Chapter 300005 AILJK – Autoimmune Interstitial Lung, Joint, and Kidney Disease
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    Chapter 300006 AIPDS Autoinflammation, Panniculitis, and Dermatosis Syndrome
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    Chapter 300007 Alpha Polypeptide
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    Chapter 300008 Alymphoid Cystic Thymic Dysgenesis
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    Chapter 300009 Amylopectinosis
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    Chapter 300011 Antibody Replacement Therapy
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    Chapter 300013 APLAID – Autoinflammatory PLCG2-Associated Antibody Deficiency and Immune Dysregulation
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    Chapter 300014 APOL1
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    Chapter 300015 APOL-1: Apolipoprotein L1
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    Chapter 300016 Arp Actin-Related Protein
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    Chapter 300017 AT
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    Chapter 300018 Ataxia-Telangiectasia Variant 1 (AT-V1)
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    Chapter 300019 ATLD
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    Chapter 300020 ATM
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    Chapter 300021 Autoinflammation with Infantile Enterocolitis
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    Chapter 300023 “Bamboo Hair”
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    Chapter 300024 Baraitser-Winter Syndrome 1
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    Chapter 300025 Berlin Breakage Syndrome
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    Chapter 300026 Bimp2
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    Chapter 300027 Bloom-Torre-Machacek Syndrome
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    Chapter 300031 CAMPS
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    Chapter 300032 Candidiasis Familial 5 (CANDF5)
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    Chapter 300033 Candidiasis Familial 6 (CANDF6)
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    Chapter 300034 Candidiasis Familial 7 (CANDF7)
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    Chapter 300035 CAP1
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    Chapter 300036 CARD Containing Molecule Enhancing NF-kB
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    Chapter 300037 CARD12
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    Chapter 300038 CARD14
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    Chapter 300042 CARMA2
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    Chapter 300043 CARMEN
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    Chapter 300046 Cat Eye Syndrome Chromosome Region, Candidate 1 (CERC1)
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    Chapter 300047 CD134
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    Chapter 300048 CD283
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    Chapter 300049 CD2-Binding Protein 1
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    Chapter 300051 CD3 Epsilon (ε)
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    Chapter 300052 CD3 Zeta (ζ)/CD247
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    Chapter 300053 CD40bp
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    Chapter 300055 CDC42 Cell Division Control Protein 42
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    Chapter 300057 c-E10
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    Chapter 300058 CHH
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    Chapter 300059 Chromosome 11q Deletion Syndrome
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    Chapter 300060 Chromosome 22q11.2 Deletion Syndrome
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    Chapter 300061 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperatures (CANDLE)
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    Chapter 300063 CINCA: Chronic Infantile Neurological Cutaneous and Articular Syndrome
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    Chapter 300069 CNO: Chronic Non-bacterial Osteomyelitis
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    Chapter 300071 Complement Factor P (CFP) Deficiency
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    Chapter 300072 Complement System, C5, C6, C7, C8, C9, Component
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    Chapter 300073 Congenital Telangiectatic Erythema
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    Chapter 300075 CRAC Channelopathy
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    Chapter 300076 CRAF1
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    Chapter 300079 CRMO: Chronic Recurrent Multifocal Osteomyelitis
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    Chapter 300080 Cryopyrin-Associated Periodic Syndromes (CAPS)
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    Chapter 300081 Cryopyrinopathies
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    Chapter 300082 CTSC Deficiency
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    Chapter 300083 CVID
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    Chapter 300084 CVID-Like
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    Chapter 300085 CXCL12 – Cysteine-X-Cysteine Chemokine Ligand 12
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    Chapter 300086 CXCR4 – Cysteine-X-Cysteine Chemokine Receptor 4
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    Chapter 300087 Cyclic Hematopoiesis
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    Chapter 300089 Deficiency of Adenosine Deaminase Type 2 (DADA2)
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    Chapter 300090 Deficiency of the IL-1 Receptor Antagonist
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    Chapter 300092 DiGeorge Syndrome
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    Chapter 300093 DIRA
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    Chapter 300094 DITRA: Deficiency of Interleukin 36 Receptor Antagonist
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    Chapter 300095 DOCK2
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    Chapter 300098 Dysgammaglobulinemia
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    Chapter 300099 Early Onset Sarcoidosis
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    Chapter 300102 EBV-Associated Autosomal Lymphoproliferative Syndrome
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    Chapter 300103 EDA-ID
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    Chapter 300106 Epidermodysplasia Verruciformis/Lewandowsky-Lutz Dysplasia
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    Chapter 300107 EVER1/TMC6
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    Chapter 300108 EVER2/TMC8
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    Chapter 300114 Familial Cold Urticaria
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    Chapter 300115 Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis
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    Chapter 300116 FCAS – Familial Cold Autoinflammatory Syndrome
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    Chapter 300117 (FCAS)
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    Chapter 300119 Ficolin-1: M-Ficolin
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    Chapter 300120 Ficolin-2: L-Ficolin
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    Chapter 300121 Ficolin-3: Hakata Antigen or H-Ficolin
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    Chapter 300122 FILS Syndrome
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    Chapter 300124 FOCM: Folate-Mediated One-Carbon Metabolism
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    Chapter 300125 FOXN1 Deficiency
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    Chapter 300138 Glucose-6-Phosphate Transport Defect
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    Chapter 300139 GPP: Generalized Pustular Psoriasis
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    Chapter 300141 Growth Hormone Insensitivity Due to Post-Receptor Defect
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    Chapter 300142 Growth Hormone Insensitivity with Immunodeficiency (MIM #245590)
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    Chapter 300143 GSD1B
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    Chapter 300147 Hall-Hittner Syndrome
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    Chapter 300148 HED-ID
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    Chapter 300149 HFM: Hereditary Folate Malabsorption
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    Chapter 300154 HLA Class I Deficiency
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    Chapter 300157 HOIL1 Deficiency
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    Chapter 300158 HOIL-1 Deficiency
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    Chapter 300159 HOIL-1 Heme-Oxidized IRP2 Ubiquitin Ligase 1
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    Chapter 300160 HOIP Deficiency
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    Chapter 300161 HOIP HOIL1 Interacting Protein
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    Chapter 300162 HPV – Human Papillomavirus
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    Chapter 300167 Human IkB-Alpha Gain of Function
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    Chapter 300168 Human Serum’s Trypanosome-Killing Component
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    Chapter 300170 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency
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    Chapter 300171 ICA
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    Chapter 300172 ICE-Protease Converting Factor
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    Chapter 300173 Ichthyosis Linearis Circumflexa
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    Chapter 300175 IIAE1
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    Chapter 300176 IIAE2
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    Chapter 300177 IIAE3
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    Chapter 300178 IIAE5
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    Chapter 300179 IkB-Alpha Gain of Function
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    Chapter 300180 IKK-Gamma Deficiency
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    Chapter 300182 IL-1 Receptor Antagonist
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    Chapter 300183 IL-17R Deficiency
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    Chapter 300184 IL-1Ra
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    Chapter 300185 IL-21 Deficiency
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    Chapter 300186 IL-21R Deficiency
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    Chapter 300188 Immune-Osseous Dysplasia
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    Chapter 300190 Immunodeficiency 31C (IMD31C)
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    Chapter 300191 Immunodeficiency 51 (IMD51)
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    Chapter 300193 Immunoglobulin Heavy Chain Deficiency
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    Chapter 300194 IPAF
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    Chapter 300196 IVIG
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    Chapter 300197 IκB Kinase-Beta
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    Chapter 300198 IΚΚ2
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    Chapter 300199 IΚΚB
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    Chapter 300200 Job’s Syndrome
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    Chapter 300201 Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy (JMP)
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    Chapter 300202 KIAA1140
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    Chapter 300204 KMT2D Mutation
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    Chapter 300205 Lactoferrin Deficiency
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    Chapter 300206 LAP1
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    Chapter 300207 Laron Syndrome Due to Post-Receptor Defect
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    Chapter 300208 Late Component Complement Deficiency
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    Chapter 300209 LPIN2 : Gene Encoding the Phosphatidate Phosphatase Lipin 2
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    Chapter 300211 LUBAC Deficiency
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    Chapter 300212 LUBAC Linear Ubiquitin Chain Assembly Complex
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    Chapter 300213 Lymphoproliferative Syndrome 1 (LPFS1)
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    Chapter 300215 Magnesium Transporter 1 (MAGT1) Deficiency
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    Chapter 300216 MALT1 Protease
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    Chapter 300223 MLL2 Mutation
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    Chapter 300226 MTHFD1: Methylenetetrahydrofolate Dehydrogenase 1
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    Chapter 300227 Muckle-Wells Syndrome (MWS)
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    Chapter 300230 N4AID
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    Chapter 300231 NAK
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    Chapter 300232 Nakajo-Nishimura Syndrome (NNS)
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    Chapter 300234 NEMO Delta C-Terminus (NEMO-DCT)
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    Chapter 300235 NEMO Delta Exon5 Autoinflammatory Syndrome (NDAS)
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    Chapter 300237 Netherton Syndrome
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    Chapter 300238 Neutropenia with Myelodysplasia
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    Chapter 300239 Neutrophil Immunodeficiency Syndrome
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    Chapter 300240 Neutrophil-Specific Granule Deficiency
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    Chapter 300242 NF-Kappa-B Essential Modulator (NEMO) Deficiency
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    Chapter 300243 NF-kB Essential Modulator (NEMO)
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    Chapter 300244 NF-κB IΚB
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    Chapter 300245 Niikawa-Kuroki Syndrome
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    Chapter 300248 NLRC4
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    Chapter 300249 NLRC4-Mediated Autoinflammatory Diseases
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    Chapter 300250 Nod, Leucine-Rich Repeat, Pyrin 3 (NLRP3)
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    Chapter 300251 NOMID: Neonatal-Onset Multisystem Inflammatory Disease
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    Chapter 300252 Nucleotide-Binding Domain, Leucine-Rich Repeat, CARD Domain 4
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    Chapter 300253 Nude SCID
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    Chapter 300255 OKT8 T Cell Antigen
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    Chapter 300272 ORAI1 Deficiency
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    Chapter 300273 OTULIN OTU Deubiquitinase with Linear Linkage Specificity
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    Chapter 300274 Otulipenia/ORAS Otulipenia/Otulin-Related Autoinflammatory Syndrome
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    Chapter 300275 p56LCK
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    Chapter 300276 PAPA
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    Chapter 300277 Paracaspase 1
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    Chapter 300278 Partial 11q Monosomy Syndrome
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    Chapter 300279 PCASP1
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    Chapter 300280 PCFT: Proton-Coupled Folate Transporter
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    Chapter 300281 Pediatric Granulomatous Arthritis
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    Chapter 300282 Periodic Neutropenia
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    Chapter 300288 PLAID – PLCγ2-Associated Antibody Deficiency and Immune Dysregulation
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    Chapter 300289 POLE1
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    Chapter 300290 POLE2
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    Chapter 300291 Polyglucosan Body Myopathy 1 With or Without Immunodeficiency (PGBM1)
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    Chapter 300292 Polyglucosan Body Myopathy, Early-Onset, With or Without Immunodeficiency (PBMEI)
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    Chapter 300293 Postmeiotic Segregation Increased 2: PMS2
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    Chapter 300296 Primary Immune Deficiency
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    Chapter 300299 Proline-Serine-Threonine Phosphatase-Interacting Protein 1
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    Chapter 300300 Properdin P Factor (Complement) (PFC) Deficiency
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    Chapter 300301 Proteasome-Associated Autoinflammatory Syndrome (PRAAS)
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    Chapter 300302 PRP
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    Chapter 300303 Pseudotoxoplasmosis Syndrome
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    Chapter 300304 PSTPIP1
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    Chapter 300305 Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne
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    Chapter 300306 Recurrent Isolated Invasive Pneumococcal Disease 1 (IPD1)
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    Chapter 300307 Reticuloendotheliosis with Eosinophilia
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    Chapter 300308 RMRP
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    Chapter 300309 RNase MRP
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    Chapter 300310 RNF168 Deficiency
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    Chapter 300311 RPSA
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    Chapter 300312 RTI Respiratory Tract Infections
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    Chapter 300313 SAVI: STING-Associated Vasculopathy with Onset in Infancy
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    Chapter 300314 Schimke Syndrome
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    Chapter 300316 SDF-1 – Stromal Cell-Derived Factor 1
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    Chapter 300317 Secondary Immune Deficiency
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    Chapter 300318 Seemanova Syndrome
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    Chapter 300319 Serine/Threonine Kinase 4 (STK4)
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    Chapter 300320 Severe Congenital Neutropenia 1(SCN1)
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    Chapter 300321 Severe Congenital Neutropenia 2 (SCN 2)
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    Chapter 300322 Severe Congenital Neutropenia 3 (SCN3)
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    Chapter 300323 Severe Congenital Neutropenia 4 (SCN4)
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    Chapter 300324 Severe Congenital Neutropenia 5 (SCN 5)
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    Chapter 300325 Severe Congenital Neutropenia with Defect in Transcription Factor Gfi1
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    Chapter 300326 Severe T Cell Immunodeficiency, Congenital Alopecia, Nail Dystrophy Syndrome
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    Chapter 300327 SH3 Domain-Binding Protein 2
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    Chapter 300328 SH3 Src Homology Domain 3
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    Chapter 300329 SH3BP2
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    Chapter 300330 SHARPIN SHANK-Interacting Protein Like 1
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    Chapter 300331 SIN Self-Inactivating
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    Chapter 300332 SLC46A1: Solute Carrier Family 46, Member 1
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    Chapter 300333 Sleeping Sickness
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    Chapter 300334 Sp110 Deficiency
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    Chapter 300336 STAT3 Loss of Function
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    Chapter 300337 STIM1 Deficiency
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    Chapter 300338 STING: Stimulator of Interferon Genes
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    Chapter 300339 Systemic Autoinflammation
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    Chapter 300340 Systemic Lymphangiectasia
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    Chapter 300341 T2K
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    Chapter 300342 TC II
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    Chapter 300343 TC2
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    Chapter 300344 T-Cell Antigen Leu2
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    Chapter 300345 TCN2: Transcobalamin II
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    Chapter 300347 Terminal Complement Complex
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    Chapter 300349 THI
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    Chapter 300350 This Group of Primary Antibody Deficiencies Are also Known as Hyper IgM Syndromes (HIGMs)
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    Chapter 300351 Thymoma with Hypogammaglobulinemia
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    Chapter 300352 TICAM1
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    Chapter 300353 TNFRSF4
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    Chapter 300354 TRAF3-Interacting Protein 2 Deficiency
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    Chapter 300355 Translocation Three Four (TTF)
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    Chapter 300356 Trichorrhexis Invaginata
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    Chapter 300357 Trypanosomiasis: African Trypanosomiasis
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    Chapter 300358 TTC7
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    Chapter 300359 UNC93B
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    Chapter 300361 Velocardiofacial Syndrome
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    Chapter 300363 WAS Wiskott-Aldrich Syndrome
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    Chapter 300368 WHIM – Warts, Hypogammaglobulinemia, Infections, Myelokathexis
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    Chapter 300372 Winged Helix Deficiency
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    Chapter 300373 WIP Wiskott-Aldrich Syndrome Protein-Interacting Protein
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    Chapter 300375 WIPF1 WAS/WASL Interacting Protein Family Member 1
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    Chapter 300376 X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia (XMEN Disease)
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    Chapter 300377 X-Linked Severe Congenital Neutropenia
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    Chapter 300378 Chromosome 7p22 Deletion
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Title
Encyclopedia of Medical Immunology
Published by
Springer New York, November 2020
DOI 10.1007/978-1-4614-8678-7
ISBNs
978-1-4614-8677-0, 978-1-4614-8678-7
Editors

Orange, Jordan Scott, Chinen, Javier

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Geographical breakdown

Country Count As %
Unknown 1 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 1 100%
Readers by discipline Count As %
Chemistry 1 100%