scholarly journals Clinical characteristics of COVID‐19 in children and young adolescents with inborn errors of immunity

2021 ◽  
Author(s):  
Ozge Yilmaz Topal ◽  
Ayse Metin ◽  
İlknur Kulhas Celik ◽  
Azize Pinar Metbulut ◽  
Selma Alim Aydin ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Young Adolescents ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Children And Young Adolescents

scholarly journals Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Immunity

2021 ◽  
Vol 58 (2) ◽  
pp. 179-180
Author(s):  
Geeta M. Gonvindaraj ◽  
U. Ramya ◽  
T. P. Ashraf ◽  
Revathi Raj ◽  
Vinod Scaria
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Inborn Errors ◽  
Hematopoietic Stem ◽  
Inborn Errors Of Immunity

scholarly journals Gut Microbiota–Host Interactions in Inborn Errors of Immunity

2021 ◽  
Vol 22 (3) ◽  
pp. 1416
Author(s):  
Riccardo Castagnoli ◽  
Francesca Pala ◽  
Marita Bosticardo ◽  
Amelia Licari ◽  
Ottavia M. Delmonte ◽  
...  
Keyword(s):  
Gut Microbiome ◽  
Wide Spectrum ◽  
Adaptive Immune System ◽  
Clinical Feature ◽  
Inborn Errors ◽  
Mucosal Permeability ◽  
Microbial Dysbiosis ◽  
Inborn Errors Of Immunity ◽  
Key Aspects ◽  
And Function

Inborn errors of immunity (IEI) are a group of disorders that are mostly caused by genetic mutations affecting immune host defense and immune regulation. Although IEI present with a wide spectrum of clinical features, in about one third of them various degrees of gastrointestinal (GI) involvement have been described and for some IEI the GI manifestations represent the main and peculiar clinical feature. The microbiome plays critical roles in the education and function of the host’s innate and adaptive immune system, and imbalances in microbiota-immunity interactions can contribute to intestinal pathogenesis. Microbial dysbiosis combined to the impairment of immunosurveillance and immune dysfunction in IEI, may favor mucosal permeability and lead to inflammation. Here we review how immune homeostasis between commensals and the host is established in the gut, and how these mechanisms can be disrupted in the context of primary immunodeficiencies. Additionally, we highlight key aspects of the first studies on gut microbiome in patients affected by IEI and discuss how gut microbiome could be harnessed as a therapeutic approach in these diseases.

scholarly journals An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity

2021 ◽  
Vol 147 (2) ◽  
pp. 428-438
Author(s):  
Jovanka R. King ◽  
Luigi D. Notarangelo ◽  
Lennart Hammarström
Keyword(s):  
Newborn Screening ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

scholarly journals Inborn errors of immunity—recent advances in research on the pathogenesis

2021 ◽  
Vol 41 (1) ◽  
Author(s):  
Motoi Yamashita ◽  
Kento Inoue ◽  
Tsubasa Okano ◽  
Tomohiro Morio
Keyword(s):  
Immune System ◽  
Hematopoietic Cell Transplantation ◽  
Epigenetic Modification ◽  
Genetic Disorder ◽  
Loss Of Function ◽  
Inborn Errors ◽  
Whole Genome Analysis ◽  
Curative Therapy ◽  
Inborn Errors Of Immunity ◽  
Recent Advances

AbstractPrimary immunodeficiency (PID) is a genetic disorder with a defect of one of the important components of our immune system. Classical PID has been recognized as a disorder with loss of function of the immune system. Recent studies have unveiled disorders with immune dysfunction with autoimmunity, autoinflammation, allergy, or predisposition to malignancy. Some of them were caused by an augmented immune function or a defect in immune regulation. With this background, the term inborn errors of immunity (IEI) is now used to refer to PID in the International Union of Immunological Societies (IUIS) classification. More than 400 responsible genes have been identified in patients with IEI so far, and importantly, many of them identified lately were caused by a heterologous mutation. Moreover, the onset is not necessarily in childhood, and we started seeing more and more IEI patients diagnosed in adulthood in the clinical settings. Recent advances in genetic analysis, including whole-exome analysis, whole-genome analysis, and RNA-seq have contributed to the identification of the disease-causing gene mutation. We also started to find heterogeneity of phenotype even in the patients with the same mutation in the same family, leading us to wonder if modifier gene or epigenetic modification is involved in the pathogenesis. In contrast, we accumulated many cases suggesting genetic heterogeneity is associated with phenotypic homogeneity. It has thus become difficult to deduce a responsible gene only from the phenotype in a certain type of IEI. Current curative therapy for IEI includes hematopoietic cell transplantation and gene therapy. Other curative therapeutic modalities have been long waited and are to be introduced in the future. These include a small molecule that inhibits the gain-of-function of the molecule- and genome-editing technology. Research on IEI will surely lead to a better understanding of other immune-related disorders including rheumatic diseases and atopic disorders.

scholarly journals Human inborn errors of immunity to herpes viruses

2020 ◽  
Vol 62 ◽  
pp. 106-122 ◽  
Author(s):  
Emmanuelle Jouanguy ◽  
Vivien Béziat ◽  
Trine H Mogensen ◽  
Jean-Laurent Casanova ◽  
Stuart G Tangye ◽  
...  
Keyword(s):  
Herpes Viruses ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

Next-generation sequencing for inborn errors of immunity

2021 ◽  
Author(s):  
Kristy Lee ◽  
Roshini S. Abraham
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Generation Sequencing

scholarly journals Inborn errors of immunity with atopic phenotypes: A practical guide for allergists

2021 ◽  
Vol 14 (2) ◽  
pp. 100513
Author(s):  
Riccardo Castagnoli ◽  
Vassilios Lougaris ◽  
Giuliana Giardino ◽  
Stefano Volpi ◽  
Lucia Leonardi ◽  
...  
Keyword(s):  
Inborn Errors ◽  
Practical Guide ◽  
Inborn Errors Of Immunity

scholarly journals Antibody responses to the SARS-CoV-2 vaccine in individuals with various Inborn Errors of Immunity

2021 ◽  
Author(s):  
Ottavia M. Delmonte ◽  
Jenna R.E. Bergerson ◽  
Peter D. Burbelo ◽  
Jessica R. Durkee-Shock ◽  
Kerry Dobbs ◽  
...  
Keyword(s):  
Antibody Responses ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

Remifentanil and propofol for sedation in children and young adolescents undergoing diagnostic flexible bronchoscopy

2000 ◽  
Vol 10 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Matthias Reyle-Hahn ◽  
Bodo Niggemann ◽  
Martin Max ◽  
Rita Streich ◽  
Rolf Rossaint
Keyword(s):  
Flexible Bronchoscopy ◽  
Young Adolescents ◽  
Children And Young Adolescents
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