Inborn Errors of Immunity

Inborn Errors of Immunity
Author: Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publsiher: Academic Press
Total Pages: 405
Release: 2021-02-15
ISBN: 0128210281
Category: Medical
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity Book Excerpt:

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. Presents valuable contribution of more than 40 expert chapter authors, from top centers spanning five continents, each in a specific PID field . Covers various aspects of PID using updated clinical guidelines and standard stepwise pipelines . Focuses on the latest developments in the molecular diagnosis and pathogenesis of diseases, with easy explanation and schematic representation of defective signaling pathways . Includes dedicated sections for clinical features and immunological tests with carefully-curated figures of PID manifestations, imaging, and histological/pathological illustrations to create the first PID medial-color atlas . Summarizes the updated conventional and specific treatments and follow-up notes for different PID diseases

Inborn Errors of Immunity and Phagocytosis

Inborn Errors of Immunity and Phagocytosis
Author: F. Güttler,J.W.T. Seakins,R. Angus Harkness
Publsiher: Springer Science & Business Media
Total Pages: 391
Release: 2012-12-06
ISBN: 9401161976
Category: Medical
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity and Phagocytosis Book Excerpt:

The rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publsiher: Wiley-Blackwell
Total Pages: 200
Release: 2012-03-13
ISBN: 9781573318785
Category: Science
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. Volume III includes overviews of PIDs in India and the Middle East as well as additional papers on new developments in primary immunodeficiencies (PIDs) and insights into PID pathophysiology. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publsiher: Wiley-Blackwell
Total Pages: 252
Release: 2011-12-27
ISBN: 9781573318495
Category: Science
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. Volume I opens with a dialog between the volume editors on the definition of “primary immunodeficiencies (PIDs);” additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific. Volume II focuses on new developments in PIDs, insights into PID pathophysiology, and PIDs in India and the Middle East. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

Inborn Errors of Immunity Predisposing to Primary Immunodeficiency and Immune Dysregulation Caused by CD137 and RASGRP1 Deficiencies

Inborn Errors of Immunity Predisposing to Primary Immunodeficiency and Immune Dysregulation Caused by CD137 and RASGRP1 Deficiencies
Author: Ido Somekh
Publsiher: Unknown
Total Pages: 0
Release: 2022
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity Predisposing to Primary Immunodeficiency and Immune Dysregulation Caused by CD137 and RASGRP1 Deficiencies Book Excerpt:

Inborn Errors of Immunity

Inborn Errors of Immunity
Author: Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publsiher: Academic Press
Total Pages: 394
Release: 2021-02-01
ISBN: 0128231890
Category: Medical
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity Book Excerpt:

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. Presents valuable contribution of more than 40 expert chapter authors, from top centers spanning five continents, each in a specific PID field • Covers various aspects of PID using updated clinical guidelines and standard stepwise pipelines • Focuses on the latest developments in the molecular diagnosis and pathogenesis of diseases, with easy explanation and schematic representation of defective signaling pathways • Includes dedicated sections for clinical features and immunological tests with carefully-curated figures of PID manifestations, imaging, and histological/pathological illustrations to create the first PID medial-color atlas • Summarizes the updated conventional and specific treatments and follow-up notes for different PID diseases

Stiehm s Immune Deficiencies

Stiehm s Immune Deficiencies
Author: Kathleen E. Sullivan,E. Richard Stiehm
Publsiher: Academic Press
Total Pages: 1332
Release: 2020-05-23
ISBN: 0128172959
Category: Medical
Language: EN, FR, DE, ES & NL

Stiehm s Immune Deficiencies Book Excerpt:

Stiehm’s Immune Deficiencies: Inborn Errors in Immunity, Second Edition, is ideal for physicians and other caregivers who specialize in immunology, allergies, infectious diseases and pulmonary medicine. It provides a validated source of information for care delivery to patients, covering approaches to diagnosis that use both new genetic information and emphasize screening strategies. Management has changed dramatically over the past five years, so approaches to infection and autoimmunity are emphasized in an effort to improve outcomes and disseminate new information on the uses of targeted therapy. Covers immune deficiencies that are presented in a practical way, providing helpful information for active clinicians Fills an increasingly deep gap in the information available to clinicians Presents both clinical management and scientific advances for immune deficiencies Provides a primary resource for physicians in the field of immunodeficiencies Includes website access to a range of videos relevant to the topics discussed

Coronavirus Disease 2019 in Patients with Inborn Errors of Immunity an International Study

Coronavirus Disease 2019 in Patients with Inborn Errors of Immunity  an International Study
Author: Isabelle Meyts,Giorgia Bucciol,Klaus Warnatz,Stuart G. Tangye
Publsiher: Unknown
Total Pages: 135
Release: 2020
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Coronavirus Disease 2019 in Patients with Inborn Errors of Immunity an International Study Book Excerpt:

Abstract: Background There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense. Objective We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2. Methods An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI. Results We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died. Conclusions This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2

Inborn Errors of Specific Immunity

Inborn Errors of Specific Immunity
Author: Bernard Pollara
Publsiher: Unknown
Total Pages: 469
Release: 1979
ISBN: 1928374650XXX
Category: Adenosine deaminase
Language: EN, FR, DE, ES & NL

Inborn Errors of Specific Immunity Book Excerpt:

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Anonim
Publsiher: Unknown
Total Pages: 141
Release: 2011
ISBN: 1928374650XXX
Category: Genetic disorders
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

"The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. This volume focuses on new developments in "primary immunodeficiencies" (PIDs), insights into PID pathophysiology, and PIDs in India and the Middle East. Volume I opens with a dialog between the volume editors on the definition of PIDs; additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific"--Publisher's description.

Inborn Errors of Immunity and Phagocytosis Monograph Based Upon Proceedings of the Fifteenth Symposium of the Society for Th

Inborn Errors of Immunity and Phagocytosis   Monograph Based Upon Proceedings of the Fifteenth Symposium of the Society for Th
Author: Society for the Study of Inborn Errors of Metabolism
Publsiher: Unknown
Total Pages: 135
Release: 1979
ISBN: 1928374650XXX
Category: Immunity
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity and Phagocytosis Monograph Based Upon Proceedings of the Fifteenth Symposium of the Society for Th Book Excerpt:

The Year in Human and Medical Genetics

  The   Year in Human and Medical Genetics
Author: Anonim
Publsiher: Unknown
Total Pages: 135
Release: 2011
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publsiher: Wiley-Blackwell
Total Pages: 252
Release: 2011-12-27
ISBN: 9781573318495
Category: Science
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. Volume I opens with a dialog between the volume editors on the definition of “primary immunodeficiencies (PIDs);” additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific. Volume II focuses on new developments in PIDs, insights into PID pathophysiology, and PIDs in India and the Middle East. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

Inborn Errors of Immunity and Phagocytosis

Inborn Errors of Immunity and Phagocytosis
Author: F. Guttler,Robert Angus Harkness,James William Thomas Seakins
Publsiher: Unknown
Total Pages: 390
Release: 1979
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Inborn Errors of Immunity and Phagocytosis Book Excerpt:

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publsiher: Wiley-Blackwell
Total Pages: 200
Release: 2012-03-13
ISBN: 9781573318785
Category: Science
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. Volume III includes overviews of PIDs in India and the Middle East as well as additional papers on new developments in primary immunodeficiencies (PIDs) and insights into PID pathophysiology. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics
Author: Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publsiher: Wiley-Blackwell
Total Pages: 208
Release: 2012-01-17
ISBN: 9781573318518
Category: Medical
Language: EN, FR, DE, ES & NL

The Year in Human and Medical Genetics Book Excerpt:

The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. This volume focuses on new developments in “primary immunodeficiencies" (PIDs), insights into PID pathophysiology, and PIDs in India and the Middle East.Volume I opens with a dialog between the volume editors on the definition of PIDs; additional papers in this volume focus on PIDs in Latin America, Eastern and Central Europe, North Africa, Turkey, Asia, Iran, and the South Pacific. NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632. ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.

Clinical and Immunological Outcome After Paediatric Stem Cell Transplantation in Inborn Errors of Immunity

Clinical and Immunological Outcome After Paediatric Stem Cell Transplantation in Inborn Errors of Immunity
Author: Anonim
Publsiher: Unknown
Total Pages: 351
Release: 2021
ISBN: 9789464163162
Category: Electronic Book
Language: EN, FR, DE, ES & NL

Clinical and Immunological Outcome After Paediatric Stem Cell Transplantation in Inborn Errors of Immunity Book Excerpt:

CRAC Channel Related Proteins in the Pathogenesis of Inborn Errors of Immunity

CRAC Channel Related Proteins in the Pathogenesis of Inborn Errors of Immunity
Author: Laura Jane Rice
Publsiher: Unknown
Total Pages: 135
Release: 2021
ISBN: 1928374650XXX
Category: Electronic Book
Language: EN, FR, DE, ES & NL

CRAC Channel Related Proteins in the Pathogenesis of Inborn Errors of Immunity Book Excerpt:

Inborn Errors of specific immunity

Inborn Errors of specific immunity
Author: New York (State)
Publsiher: Unknown
Total Pages: 135
Release: 1979
ISBN: 1928374650XXX
Category: Immunological deficiency syndromes
Language: EN, FR, DE, ES & NL

Inborn Errors of specific immunity Book Excerpt:

Tietz Textbook of Laboratory Medicine E Book

Tietz Textbook of Laboratory Medicine   E Book
Author: Nader Rifai
Publsiher: Elsevier Health Sciences
Total Pages: 1584
Release: 2022-02-03
ISBN: 0323834671
Category: Medical
Language: EN, FR, DE, ES & NL

Tietz Textbook of Laboratory Medicine E Book Book Excerpt:

Use THE definitive reference for laboratory medicine and clinical pathology! Tietz Textbook of Laboratory Medicine, 7th Edition provides the guidance necessary to select, perform, and evaluate the results of new and established laboratory tests. Comprehensive coverage includes the latest advances in topics such as clinical chemistry, genetic metabolic disorders, molecular diagnostics, hematology and coagulation, clinical microbiology, transfusion medicine, and clinical immunology. From a team of expert contributors led by Nader Rifai, this reference includes access to wide-ranging online resources on Expert Consult — featuring the comprehensive product with fully searchable text, regular content updates, animations, podcasts, over 1300 clinical case studies, lecture series, and more. Authoritative, current content helps you perform tests in a cost-effective, timely, and efficient manner; provides expertise in managing clinical laboratory needs; and shows how to be responsive to an ever-changing environment. Current guidelines help you select, perform, and evaluate the results of new and established laboratory tests. Expert, internationally recognized chapter authors present guidelines representing different practices and points of view. Analytical criteria focus on the medical usefulness of laboratory procedures. Use of standard and international units of measure makes this text appropriate for any user, anywhere in the world. Expert Consult provides the entire text as a fully searchable eBook, and includes regular content updates, animations, podcasts, more than 1300 clinical case studies, over 2500 multiple-choice questions, a lecture series, and more. NEW! 19 additional chapters highlight various specialties throughout laboratory medicine. NEW! Updated, peer-reviewed content provides the most current information possible. NEW! The largest-ever compilation of clinical cases in laboratory medicine is included on Expert Consult. NEW! Over 100 adaptive learning courses on Expert Consult offer the opportunity for personalized education.