scholarly journals Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 194 ◽  
Author(s):  
Giorgia Bucciol ◽  
Isabelle Meyts
Keyword(s):  
Gene Therapy ◽  
Primary Immunodeficiency ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Technological Advances ◽  
Fast Pace ◽  
Recent Developments ◽  
Generation Sequencing ◽  
Review Current ◽  
Diagnostics And Therapy

The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment. We will summarize the challenges posed by the growth of next-generation sequencing in the clinical setting, touch briefly on the expansion of the concept of inborn errors of immunity beyond the classic immune system realm, and finally review current developments in targeted therapies, stem cell transplantation, and gene therapy.

scholarly journals Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity?

2021 ◽  
Vol 12 ◽  
Author(s):  
Rohan Ameratunga ◽  
Hilary Longhurst ◽  
Klaus Lehnert ◽  
Richard Steele ◽  
Emily S. J. Edwards ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Inborn Errors ◽  
Primary Immunodeficiency Disorders ◽  
Inborn Errors Of Immunity

COVID-19 post-vaccination recommendations in primary immunodeficiency

2021 ◽  
Author(s):  
Chaim M Roifman ◽  
Linda Vong
Keyword(s):  
Protective Effect ◽  
Antibody Titre ◽  
Primary Immunodeficiency ◽  
General Public ◽  
Effective Vaccine ◽  
Inborn Errors ◽  
Post Vaccination ◽  
Inborn Errors Of Immunity ◽  
Vaccination Recommendations ◽  
Significant Disease

The COVID-19 pandemic has proven a very difficult and challenging time for humanity to combat. Science stood up to the challenge in the most admirable manner by producing an unprecedented vaccine against SARS-COV-2. This highly effective vaccine was also recommended and administered to individuals with inborn errors of immunity that lead to primary immunodeficiency. While multiple studies have confirmed the efficacy of the vaccine in preventing significant disease in the general public, this protective effect has not been thoroughly evaluated in immune compromised hosts. Here, we provide post-vaccination recommendations for individuals with primary immunodeficiency, including the need for a third booster shot and considerations for antibody titre testing.

The Origins of the First Reported Cases of the Primary Immunodeficiency Diseases

2021 ◽  
Author(s):  
Seyed Erfan Rasouli ◽  
Parisa Amirifar
Keyword(s):  
Primary Immunodeficiency ◽  
Case Reports ◽  
Genetic Disorders ◽  
Genetic Defect ◽  
Inborn Errors ◽  
Future Studies ◽  
Inborn Errors Of Immunity ◽  
First Case ◽  
Geographical Dispersion ◽  
First Time

Background: Inborn Errors of Immunity (IEI) or Primary Immunodeficiency Disorders (PID), are heterogeneous diseases with defects on the components of the immune system. We have provided information about the consanguinity and origins of over 400 affected patients for the first time. Methods: To study the genes, we used the classification tables provided by the IUIS (the International Union of Immunological Societies) in 2020, that documents the key clinical and laboratory features of more than 400 inborn errors of immunity. Results: We have identified the national origins of 301 cases with a known gene, while national origins’ information of the 90 other genes (90 cases) was left incomplete, due to the unavailability of the first case reports or the fail to mention the patients’ origin in the article publication of the first report. Among the 301 genes, Asia has the largest geographical dispersion with 103 reported cases. We found that the 101 first case reports, were identified in more than one patient, regardless of the geography they live in. Our survey demonstrated that out of the 165 first reported cases with genetic defects resulted from a consanguineous marriage, 112 cases were identified in Asia. Conclusions: This report provides valuable information on the geographical data and the prevalence of the various genetic disorders, worldwide. Also, by providing information related to parental consanguinity of the first reported cases with a genetic defect, valuable information about inborn errors of immunity, will be accessible for the researchers, which can be used effectively in future studies.

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

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity

2020 ◽  
Vol 98 (3) ◽  
pp. 231-239
Author(s):  
Evgeny N. Suspitsin ◽  
Marina N. Guseva ◽  
Mikhail M. Kostik ◽  
Anna P. Sokolenko ◽  
Nataliya V. Skripchenko ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Suspicion ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

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 Functional genetics in inborn errors of immunity

2021 ◽  
pp. FRD11
Author(s):  
Emma Rey-Jurado ◽  
María Cecilia Poli
Keyword(s):  
Primary Immunodeficiencies ◽  
Genetic Defects ◽  
Potential Candidate ◽  
Functional Validation ◽  
Inborn Errors ◽  
Susceptibility To Infection ◽  
Inborn Errors Of Immunity ◽  
Genes Encoding ◽  
Generation Sequencing ◽  
Increased Susceptibility

Inborn errors of immunity are genetic defects of the immune system, causing increased susceptibility to infection, autoinflammation, autoimmunity and immune dysregulation. Next-generation sequencing has enabled exponential identification of novel inborn errors of immunity due to mutations in genes encoding for proteins that participate in the immune response. However, genomic sequencing often yields multiple variants in potential candidate genes, hence functional validation of these genetic defects becomes paramount to achieve diagnosis and discovery. Genome-editing technologies such as CRISPR-Cas9 have allowed exponential advances on discovery of new primary immunodeficiencies, enabling appropriate diagnosis and treatment. This review summarizes the heterogeneous clinical presentation of primary immunodeficiencies and contextualizes the rationale for functional validation studies to achieve diagnosis and discovery, subsequently leading to the application of directed therapies.

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