Humoral Primary Immunodeficiencies, 1st ed. 2019 Rare Diseases of the Immune System Series

This book presents detailed state of the art knowledge on the humoral primary immunodeficiencies (PIDs), i.e., disorders arising from impaired antibody production due to defects intrinsic to B cells or defective interaction between B and T cells. There is extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured in accordance with the most recent classification of PIDs and also covers updates on the B cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel humoral PID genes and related clinical applications, mucosal B cells, and the various clinical phenotypes of humoral PIDs. Aspects such as differential diagnosis, clinical management in children and adults, and the role of vaccines are also addressed. The authors are all recognized experts from Europe, Australia, and the United States. Humoral Primary Immunodeficiencies will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD and PhD students.

Preface.- 1. B cells and the B-cell immunological synapse.-2  Mucosal B cells.- 3 CVID. – 4 LOCID. – 5 Genetics of CVID. – 6 ICOS deficiency. – 7 CD19 deficiency.- 8 CD20 deficiency. – 9 CD21 deficiency. – 10 CD81 deficiency. - 11 TACI deficiency, . – 12 LRBA deficiency. – 13 BAFF receptor deficiency. – 14 TWEAK defects. - 15 NFKB2 deficiency. – 16 WHIM syndrome. – 17 Novel humoral PID genes. – 18 Class Switch Recombination defects,.- 19 Selective IgA deficiency.- 20 IgA with IgG subclass deficiency. - 21 Isolated IgG subclass deficiency. – 22 Thymoma with immunodeficiency. – 23 PRKC delta and PI3K-delta associated diseases. – 24 Differential diagnostic in hypogammaglobulinemia. – 25 Management of Humoral primary immunodeficiencies in pediatrics.- 26 Management of Humoral primary immunodeficiencies in adults.- 27 Vaccines in humoral PID.- 28 Humoral PID and neoplasias.- 29 Humoral PID and autoimmunity. – 30 Lung involvement.- 31 Gut involvement.- Subject Index.

Mario M. D'Elios, MD, PhD, Specialist in Clinical Immunology & Allergy, Professor of Internal Medicine, Group leader, chief of the Nanomedicine and Immunology unit at the University of Florence, Italy. Expert in mucosal immunology, primary immunodeficiencies and infectious diseases.

Marta Rizzi, MD, PhD, Specialist in Allergy and Clinical Immunology, Group leader, Margarete von Wrangell fellow, at the Department of Rheumatology and Clinical Immunology /Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Germany, Expert in human B lymphocytes development, primary immunodeficiency and immune dysregulation.

Describes basic science discoveries and the latest clinical advances

Structured in accordance with the most recent classification of humoral PIDs

Covers updates in the B cell immunological synapse

Provides in-depth descriptions of novel humoral PID genes and related clinical applications

Documents the different clinical phenotypes of humoral PIDs