scholarly journals Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

2020 ◽  
Vol 40 (1) ◽  
pp. 24-64 ◽  
Author(s):  
Stuart G. Tangye ◽  
Waleed Al-Herz ◽  
Aziz Bousfiha ◽  
Talal Chatila ◽  
Charlotte Cunningham-Rundles ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Rapid Identification ◽  
Expert Committee ◽  
International Union ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Immunological Mechanisms ◽  
Gene Defects ◽  
Generation Sequencing

Abstract We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

scholarly journals The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

2021 ◽  
Vol 41 (3) ◽  
pp. 666-679 ◽  
Author(s):  
Stuart G. Tangye ◽  
Waleed Al-Herz ◽  
Aziz Bousfiha ◽  
Charlotte Cunningham-Rundles ◽  
Jose Luis Franco ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Primary Immunodeficiencies ◽  
Expert Committee ◽  
International Union ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Gene Defects ◽  
Immune Defects

AbstractThe most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

scholarly journals Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

2020 ◽  
Vol 40 (1) ◽  
pp. 65-65 ◽  
Author(s):  
Stuart G. Tangye ◽  
Waleed Al-Herz ◽  
Aziz Bousfiha ◽  
Talal Chatila ◽  
Charlotte Cunningham-Rundles ◽  
...  
Keyword(s):  
Expert Committee ◽  
International Union ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

Dynamic relationships among tumor, immune response, and microbiota

2019 ◽  
Vol 3 (1) ◽  
pp. 41
Author(s):  
Takuya Tsunoda ◽  
Kazunori Shimada ◽  
Naoki Uchida ◽  
Shinichi Kobayashi ◽  
Yasutsuna Sasaki
Keyword(s):  
Molecular Mechanisms ◽  
Checkpoint Inhibitors ◽  
Advanced Cancer Patients ◽  
Cancer Treatments ◽  
Disease Etiology ◽  
The Past ◽  
Dynamic Relationships ◽  
The Relationship ◽  
Generation Sequencing

Recently, the analysis of microbiota has been of interest not only for the clarification of the molecular mechanisms of disease etiology, but also the discovery of novel strategies for treatment. Following the development of "next-generation" sequencing, novel areas have been discovered in microbiota; however, in oncology, the relationships between microbiota and cancer have not been fully clarified. In recent literature, surprisingly, detection of gut microbiota in tumor issue itself has been reported. Microbiota might play an important role in carcinogenesis. However, this phenomenon is not well understood, and research in this area has just begun. In the past five years, a paradigm shift has occurred in cancer treatment due to immunotherapy. Immunotherapy has made cure possible even in advanced cancer patients with not only melanoma but also non-small cell lung cancer and others. In this review, we discuss the mechanisms of novel immunotherapies, checkpoint inhibitors, and the relationship between microbiota and immunotherapy. It is of significance to clarify this relationship because it may lead to the discovery of predictive markers for immunotherapy and promote clinical efficacy. Finally, we also mention our activities in the construction of a big database for information on immunotherapy and microbiota, which may lead to excellent possibilities of discovering novel strategies for more effective cancer treatments, and may accelerate the alteration of cancers to the classification of chronic nonfatal disease.

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

2021 ◽  
Vol 137 ◽  
pp. 57-66
Author(s):  
Esmat Karimi ◽  
Fatemeh Mahmoudian ◽  
Saul O. Lugo Reyes ◽  
Umair Ahmed Bargir ◽  
Manisha Madkaikar ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Generation Sequencing

International Union of Pharmacology. XLV. Classification of the Kinin Receptor Family: from Molecular Mechanisms to Pathophysiological Consequences

2005 ◽  
Vol 57 (1) ◽  
pp. 27-77 ◽  
Author(s):  
L. M. Fredrik Leeb-Lundberg ◽  
Francois Marceau ◽  
Werner Müller-Esterl ◽  
Douglas J. Pettibone ◽  
Bruce L. Zuraw
Keyword(s):  
Molecular Mechanisms ◽  
International Union ◽  
Kinin Receptor ◽  
Receptor Family

scholarly journals Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2056
Author(s):  
Barbara Bosch ◽  
Yuval Itan ◽  
Isabelle Meyts
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Molecular Mechanisms ◽  
Future Research ◽  
Sequencing Analysis ◽  
Genetic Etiology ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Whole Exome ◽  
Clinical Description

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity along five central steps taken in whole-exome sequencing analysis. In parallel, we highlight the challenges for the clinical and scientific use of the method and how these hurdles are currently being addressed. We end by ruminating on major areas in the field open to future research.

scholarly journals Dynamic relationships among tumor, immune response, and microbiota

2017 ◽  
Vol 1 (2) ◽  
Author(s):  
Takuya Tsunoda ◽  
Kazunori Shimada ◽  
Naoki Uchida ◽  
Shinichi Kobayashi ◽  
Yasutsuna Sasaki
Keyword(s):  
Molecular Mechanisms ◽  
Checkpoint Inhibitors ◽  
Advanced Cancer Patients ◽  
Cancer Treatments ◽  
Disease Etiology ◽  
The Past ◽  
Dynamic Relationships ◽  
The Relationship ◽  
Generation Sequencing

Recently, the analysis of microbiota has been of interest not only for the clarification of the molecular mechanisms of disease etiology, but also the discovery of novel strategies for treatment. Following the development of “next-generation” sequencing, novel areas have been discovered in microbiota; however, in oncology, the relationships between microbiota and cancer have not been fully clarified. In recent literature, surprisingly, detection of gut microbiota in tumor issue itself has been reported. Microbiota might play an important role in carcinogenesis. However, this phenomenon is not well understood, and research in this area has just begun. In the past five years, a paradigm shift has occurred in cancer treatment due to immunotherapy. Immunotherapy has made cure possible even in advanced cancer patients with not only melanoma but also non-small cell lung cancer and others. In this review, we discuss the mechanisms of novel immunotherapies, checkpoint inhibitors, and the relationship between microbiota and immunotherapy. It is of significance to clarify this relationship because it may lead to the discovery of predictive markers for immunotherapy and promote clinical efficacy. Finally, we also mention our activities in the construction of a big database for information on immunotherapy and microbiota, which may lead to excellent possibilities of discovering novel strategies for more effective cancer treatments, and may accelerate the alteration of cancers to the classification of chronic nonfatal disease.

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