Inborn Errors of Immunity

A Practical Guide

1st Edition - January 22, 2021
Editors: Asghar Aghamohammadi, Hassan Abolhassani, Nima Rezaei, Reza Yazdani
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 2 1 0 2 8 - 4
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 3 1 8 9 - 0

Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Fu… Read more

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Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Furthermore, clinicians who are educated about PIDs can give their patients access to optimal management of their condition, thus helping the patient achieve a better quality-of-life and long-term prognosis.

Inborn Errors of Immunity: A Practical Guide provides the most up-to-date information for busy students, nurses, clinical residents, practicing physicians, and even basic researchers. Readers will benefit from a well-structured breakdown of complicated PID diseases, including approaches to their clinical signs/symptoms and immunologic/laboratory findings.

Cover image
Title page
Table of Contents
Copyright
Dedication
Commemorative note for Asghar Aghamohammadi (1951–2020)
Contributors
Preface
Abbreviations
Chapter 1: Inborn errors of immunity
Abstract
1.1: Introduction on inborn errors of immunity
Chapter 2: Immunodeficiencies affecting cellular and humoral immunity
Abstract
2.1: Approach to patients with nonsyndromic combined immunodeficiencies
2.2: Combined immunodeficiencies
2.3: T − B + severe combined immunodeficiency
2.4: T − B − severe combined immunodeficiency
2.5: Combined immunodeficiencies with less profound partial T-cell defects
2.6: Omenn syndrome
2.7: Combined immunodeficiencies with hyper-IgM phenotype
2.8: Major histocompatibility complex class I deficiency
2.9: Other CD8 low combined immunodeficiencies
2.10: MHC class II deficiency
2.11: Other CD4 low combined immunodeficiencies
2.12: Combined immunodeficiency associated with prominent B cells defects
2.13: Other rare combined immunodeficiencies
Chapter 3: Combined immunodeficiencies with associated or syndromic features
Abstract
3.1: Approach to patients with syndromic combined immunodeficiencies
3.2: Wiskott-Aldrich syndrome and other congenital thrombocytopenia
3.3: Ataxia-telangiectasia
3.4: Nijmegen breakage syndrome
3.5: Bloom syndrome
3.6: Immunodeficiency, centromeric instability, facial dysmorphism syndrome
3.7: Other syndromic combined immunodeficiencies with DNA repair defects
3.8: Syndromic combined immune deficiencies associated with thymic defects
3.9: Syndromic combined immunodeficiency associated with immuno-osseous dysplasias
3.10: Schimke’s immuno-osseous dysplasia
3.11: Hyper IgE syndromes
3.12: Syndromic combined immunodeficiency associated with metabolic defects
3.13: Dyskeratosis congenita syndrome
3.14: Ectodermal dysplasia syndrome
3.15: Calcium channel defects
3.16: Purine nucleoside phosphorylase deficiency
3.17: Hepatic veno-occlusive disease with immunodeficiency
3.18: Other combined immunodeficiency syndromes
Chapter 4: Predominantly antibody deficiencies
Abstract
4.1: Approach to patients with predominantly antibody deficiencies
4.2: X-Linked agammaglobulinemia
4.3: Mu heavy chain deficiency
4.4: Kappa chain deficiency
4.5: Other forms of autosomal agammaglobulinemia
4.6: Common variable immuno deficiency
4.7: Activation-induced cytidine deaminase deficiency
4.8: Uracil N-glycosylase deficiency
4.9: Mutator S homology2/6 deficiency
4.10: INO80 deficiency
4.11: Specific antibody deficiency
4.12: IgA with IgG subclass deficiency
4.13: Isolated IgG subclass deficiency
4.14: Selective IgA deficiency
4.15: Selective IgM deficiency
4.16: Transient hypogammaglobulinemia of infancy
Chapter 5: Diseases of immune dysregulation
Abstract
5.1: Approach to patients with diseases of immune dysregulation
5.2: Familial haemophagocytic lymphohistiocytosis syndromes
5.3: Familial haemophagocytic lymphohistiocytosis syndromes with partial albinism and hypopigmentation
5.4: Regulatory T cell defects
5.5: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
5.6: CD25 and CD122 deficiency
5.7: Signal transducer and activator of transcription 3 gain-of-function
5.8: LRBA and CTLA4 deficiencies
5.9: Autoimmunity with or without lymphoproliferation
5.10: Immune dysregulation with colitis
5.11: Autoimmune lymphoproliferative syndrome
5.12: Susceptibility to Epstein-Barr virus and lymphoproliferative conditions
Chapter 6: Congenital defects of phagocytes
Abstract
6.1: Approach to patients with congenital defects of phagocytes
6.2: Severe congenital neutropenia
6.3: Cyclic neutropenia
6.4: GFI1 deficiency
6.5: HAX1 deficiency
6.6: G6PC3 deficiency
6.7: VPS45 deficiency
6.8: JAGN1 deficiency
6.9: Granulocyte colony-stimulating factor receptor deficiency
6.10: Shwachman-Diamond syndrome-1
6.11: Barth syndrome (3-methylglutaconic aciduria type II) tafazzin deficiency
6.12: Cohen syndrome
6.13: Clericuzio-type poikiloderma with neutropenia syndrome
6.14: Rothmund-Thomson syndrome
6.15: GATA2 deficiency
6.16: X-linked neutropenia or WAS gain-of-function
6.17: Glycogen storage disease type 1b
6.18: P14/LAMTOR2 deficiency
6.19: 3-Methylglutaconic aciduria type 7
6.20: SMARCD2 deficiency
6.21: Hypoxia upregulated protein 1 deficiency
6.22: Warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome
6.23: Serine or threonine-protein kinase 4 deficiency
6.24: Leukocyte adhesion deficiency
6.25: Papillon-Lefèvre syndrome
6.26: WDR1 deficiency
6.27: RAC2 deficiency
6.28: Megakaryoblastic leukemia 1 deficiency
6.29: Cystic fibrosis
6.30: Chronic granulomatous disease
6.31: Myeloperoxidase deficiency
6.32: Glucose-6-phosphate dehydrogenase deficiency (class I/II)
6.33: Specific granule deficiency-1
6.34: Hereditary pulmonary alveolar proteinosis
Chapter 7: Defects in intrinsic and innate immunity
Abstract
7.1: Approach to patients with defects in intrinsic and innate immunity
7.2: Mendelian susceptibility to mycobacterial diseases
7.3: Epidermodysplasia verruciformis
7.4: Predisposition to severe viral infection
7.5: Herpes simplex encephalitis
7.6: Predisposition to mucocutaneous candidiasis
7.7: Toll-like receptors signaling pathway deficiency with bacterial susceptibility
7.8: Isolated congenital asplenia
7.9: Other primary immunodeficiency disorders with defects in intrinsic and innate immunity
Chapter 8: Autoinflammatory disorders
Abstract
8.1: Approach to patients with autoinflammatory disorders
8.2: Aicardi-Goutieres syndrome
8.3: ADA2 deficiency
8.4: Other type 1 interferonopathies
8.5: Familial Mediterranean fever
8.6: Mevalonate kinase deficiency (hyper IgD syndrome)
8.7: PLCγ2 associated antibody deficiency and immune dysregulation
8.8: NLRP-associated autoinflammatory diseases
8.9: Cryopyrin-associated periodic syndrome
8.10: PsAPASH syndrome
8.11: Tumor necrosis factor receptor-associated periodic syndrome
8.12: Majeed syndrome
8.13: Deficiency of IL-1- and IL-36 receptor antagonists
8.14: Cherubsim
8.15: Blau syndrome
8.16: CARD14-mediated psoriasis
8.17: Chronic atypical neutrophilic dermatitis with lipodystrophy
8.18: Otulipenia/OTULIN-related autoinflammatory syndrome
8.19: ADAM17 deficiency
8.20: SLC29A3 deficiency
8.21: COPA deficiency
8.22: AP1S3 deficiency
8.23: A20, ALPI, TRIM22 and TIM3 deficiencies
Chapter 9: Complement deficiencies
Abstract
9.1: Approach to complement deficiencies
9.2: Classical pathway complement defects
9.3: C1 complex deficiency
9.4: C3 deficiency and gain-of-function
9.5: Late acting complement protein deficiencies
9.6: Hereditary angioedema or C1 inhibitor deficiency
9.7: Atypical hemolytic-uremic syndrome
9.8: Factor D deficiency
9.9: Properdin deficiency
9.10: Ficolin 3 deficiency
9.11: Paroxysmal nocturnal hemoglobinuria and membrane-bound regulator deficiencies
9.12: Mannose-binding lectin deficiency
9.13: Mannose-binding lectin-associated serine protease 2 deficiency
9.14: Factor B defects
Chapter 10: Phenocopies of inborn errors of immunity
Abstract
10.1: Approach to phenocopies of inborn errors of immunity
10.2: Autoimmune lymphoproliferative syndrome due to somatic mutations in FAS
10.3: RAS-associated autoimmune leukoproliferative disease due to KRAS or NRAS somatic mutations
10.4: Cryopyrinopathy due to somatic mutations in NLRP3
10.5: Hypereosinophilic syndrome due to somatic mutations in STAT5B
10.6: Large granular lymphocytosis due to somatic mutations in STAT3
10.7: Phenocopies of chronic mucocutaneous candidiasis
10.8: Adult-onset immunodeficiency with susceptibility to mycobacteria
10.9: Phenocopies of recurrent skin infection due to anti-IL-6 autoantibodies
10.10: Phenocopies of pulmonary alveolar proteinosis
10.11: Acquired angioedema
10.12: Phenocopies of atypical hemolytic-uremic syndrome
10.13: Thymoma with hypogammaglobulinemia (Good syndrome)
Chapter 11: Management of inborn errors of immunity
Abstract
11.1: Approach to management of inborn errors of immunity
11.2: Antibiotic prophylaxis
11.3: Immunoglobulin replacement therapy
11.4: Hematopoietic stem cell transplantation
11.5: Gene therapy for primary immunodeficiency disorders
11.6: Newborn screening and vaccine modification
Index

Asghar Aghamohammadi

Asghar Aghamohammadi was a Professor in Pediatrics and Clinical Immunology, at the Tehran University of Medical Sciences (TUMS) in Iran. He directed the Research Center for Immunodeficiencies (RCID), the pre-eminent centre in Iran for primary immunodeficiency. He completed a fellowship in Great Ormond Street Hospital, UK and earned a PhD from the University of Toyama, Japan. His work focused on primary immunodeficiency, including primary antibody deficiency disorders, molecular diagnosis, and patient treatment and management. His work has been widely published and referred to in his field.

Affiliations and expertise

Professor, Department of Pediatrics; President, RCID, Pediatrics Center of Excellence, Children's Medical Center, TUMS, Iran

Hassan Abolhassani

Hassan Abolhassani is a leading member of the Junior Faculty at the Karolinska Institute (KI) and a team leader at Division of Clinical Immunology in the Department of Laboratory Medicine, KI in Sweden. He received his MD and his first PhD in Immunogenetics from TUMS and his second PhD in Clinical Immunology from the KI. His work focuses on the gene discovery and pathogenesis of primary antibody deficiency and the immune pathways involved, to help physicians and immunologists understand immune-related genes with unknown functions. He has received numerous academic awards and is widely published in the field.

Affiliations and expertise

Team leader, Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden

Nima Rezaei

Professor Nima Rezaei gained his medical degree (MD) from Tehran University of Medical Sciences and subsequently obtained an MSc in Molecular and Genetic Medicine and a PhD in Clinical Immunology and Human Genetics from the University of Sheffield, UK. He also spent a short-term fellowship of Pediatric Clinical Immunology and Bone Marrow Transplantation in the Newcastle General Hospital. Professor Rezaei is now the Full Professor of Immunology and Vice Dean of Research, School of Medicine, Tehran University of Medical Sciences, and the co-founder and Head of the Research Center for Immunodeficiencies. He is also the founding President of the Universal Scientific Education and Research Network (USERN). Professor Rezaei has already been the Director of more than 55 research projects and has designed and participated in several international collaborative projects. Professor Rezaei is an editorial assistant or board member for more than 30 international journals. He has edited more than 35 international books, has presented more than 500 lectures/posters in congresses/meetings, and has published more than 1,000 scientific papers in the international journals.

Affiliations and expertise

Professor, Department of Immunology, School of Medicine; Head, Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences; Founding President, Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA),Universal Scientific Education and Research Network (USERN),Tehran, Iran

Reza Yazdani

Reza Yazdani is Assistant Professor at the RCID, TUMS, in Iran. He is an academic member of the RCID, the pre-eminent centre in Iran for primary immunodeficiency. He holds a PhD in medical immunology focusing on basic immunologic methodologies and immunologic phenotyping of patients with primary antibody deficiency. He has received numerous awards and honors and published over 100 papers in the field.

Affiliations and expertise

Assistant Professor, RCID, Pediatrics Center of Excellence, Children's Medical Center, TUMS, Iran

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Inborn Errors of Immunity

A Practical Guide

Purchase options

Institutional subscription on ScienceDirect

Asghar Aghamohammadi

Hassan Abolhassani

Nima Rezaei

Reza Yazdani