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Inborn Errors Of Immunity

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Inborn Errors of Immunity

Inborn Errors of Immunity Book
Author : Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publisher : Academic Press
Release : 2021-02-15
ISBN : 0128210281
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : F. Güttler,J.W.T. Seakins,R. Angus Harkness
Publisher : Springer Science & Business Media
Release : 2012-12-06
ISBN : 9401161976
Language : En, Es, Fr & De

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Book Description :

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.

Stiehm s Immune Deficiencies

Stiehm s Immune Deficiencies Book
Author : Kathleen E. Sullivan, MD PhD,E. Richard Stiehm, MD
Publisher : Academic Press
Release : 2020-07-10
ISBN : 0128167688
Language : En, Es, Fr & De

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Book Description :

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

Identifying Novel Inborn Errors of the Immune System

Identifying Novel Inborn Errors of the Immune System Book
Author : Elisabeth Salzer
Publisher : Springer
Release : 2017-01-19
ISBN : 9783658167950
Language : En, Es, Fr & De

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Book Description :

In her study Elisabeth Salzer describes three novel monogenic diseases. For CD27 deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in PRKCD resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of IL6. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in IL21. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune system and highlighted essential players in these complex signaling networks.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics Book
Author : Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publisher : Wiley-Blackwell
Release : 2012-03-13
ISBN : 9781573318785
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Anonim
Publisher : Unknown
Release : 2011
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download The Year in Human and Medical Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

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 Book
Author : Society for the Study of Inborn Errors of Metabolism
Publisher : Unknown
Release : 1979
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Inborn Errors of Immunity and Phagocytosis Monograph Based Upon Proceedings of the Fifteenth Symposium of the Society for Th book written by Society for the Study of Inborn Errors of Metabolism, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics Book
Author : Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publisher : Wiley-Blackwell
Release : 2011-12-27
ISBN : 9781573318495
Language : En, Es, Fr & De

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Book Description :

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.

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

CRAC Channel Related Proteins in the Pathogenesis of Inborn Errors of Immunity Book
Author : Laura Jane Rice
Publisher : Unknown
Release : 2021
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download CRAC Channel Related Proteins in the Pathogenesis of Inborn Errors of Immunity book written by Laura Jane Rice, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Year in Human and Medical Genetics

The Year in Human and Medical Genetics Book
Author : Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publisher : Wiley-Blackwell
Release : 2012-03-13
ISBN : 9781573318785
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Jean-Laurent Casanova,Mary Ellen Conley,Luigi Notarangelo
Publisher : Wiley-Blackwell
Release : 2012-01-17
ISBN : 9781573318518
Language : En, Es, Fr & De

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Book Description :

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.

Inborn Errors of Immunity and Phagocytosis

Inborn Errors of Immunity and Phagocytosis Book
Author : F. Guttler,Robert Angus Harkness,James William Thomas Seakins
Publisher : Unknown
Release : 1979
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Inborn Errors of Immunity and Phagocytosis book written by F. Guttler,Robert Angus Harkness,James William Thomas Seakins, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

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 Book
Author : Isabelle Meyts,Giorgia Bucciol,Klaus Warnatz,Stuart G. Tangye
Publisher : Unknown
Release : 2020
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 Immunity

Inborn Errors of Immunity Book
Author : Asghar Aghamohammadi,Hassan Abolhassani,Nima Rezaei,Reza Yazdani
Publisher : Academic Press
Release : 2021-02-01
ISBN : 0128231890
Language : En, Es, Fr & De

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Book Description :

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 Specific Immunity

Inborn Errors of Specific Immunity Book
Author : Bernard Pollara
Publisher : Unknown
Release : 1979
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Inborn Errors of Specific Immunity book written by Bernard Pollara, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Inborn Errors of specific immunity

Inborn Errors of specific immunity Book
Author : New York (State)
Publisher : Unknown
Release : 1979
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Inborn Errors of specific immunity book written by New York (State), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Multi parametric Phenotyping and Repertoire Analysis as Novel Tools to Understand Rare T cell Populations in Patients with Inborn Errors of Immunity

Multi parametric Phenotyping and Repertoire Analysis as Novel Tools to Understand Rare T cell Populations in Patients with Inborn Errors of Immunity Book
Author : Patrick Kury
Publisher : Unknown
Release : 2021
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Multi parametric Phenotyping and Repertoire Analysis as Novel Tools to Understand Rare T cell Populations in Patients with Inborn Errors of Immunity book written by Patrick Kury, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Inborn Errors of Specific Immunity

Inborn Errors of Specific Immunity Book
Author : Symposium on Inborn Errors of Specific Immunity
Publisher : Unknown
Release : 2021-10-24
ISBN : 9780125596503
Language : En, Es, Fr & De

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Book Description :

Download Inborn Errors of Specific Immunity book written by Symposium on Inborn Errors of Specific Immunity, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.