Results 11 to 20 of about 4,846,243 (320)

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs [PDF]

The Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
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Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Nature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Hertel, Johannes, Freitag, Daniel F., Kronenberg, Florian, Mielke, Johanna, Li, Yong, Spiekerkötter, Ute, Schlosser, Pascal, GCKD Investigators, [Study group], Thiele, Ines, Sekula, Peggy, Oefner, Peter J., Cheng, Yurong, Eckardt, Kai-Uwe, Köttgen, Anna, Schmidts, Miriam, Oefner, Peter J, Freitag, Daniel F, Spiekerkoetter, Ute   +17 more
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Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism [PDF]

Frontiers in Physiology, 2021
Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
Juri Zuvadelli, Lorenza Putignani, Cristina Bonfanti, on behalf of SIMMESN Working group for gut microbiota in inborn errors of metabolism, Chiara Montanari, Sara Parolisi, Biasucci G, Elisa Borghi, Maria Teresa Carbone and Elvira Verduci, Albina Tummolo, Giulia Bassanini, Carlo Dionisi Vici, Alberto Burlina, Verduci E., Putignani L., Biasucci G., Carbone M. T., Maria Teresa Carbone, Borghi E., Parolisi S., Giacomo Biasucci, Dionisi Vici C., Tummolo A., Montanari C., Elvira Verduci, Bassanini G., Bonfanti C., Zuvadelli J., Burlina A.   +28 more
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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]

Journal of Clinical Immunology, 2022
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
Sullivan, Kathleen E, Tangye, Stuart G., Seppanen, Mikko R.J., Somech, Raz, Su, Helen C., Holland, Steven M, Holland, Steven M., Klein, Christoph, Al-Herz, Waleed, Cunningham-Rundles, Charlotte, Sullivan, Kathleen E., Tangye, Stuart G, Torgerson, Troy R., Franco, Jose Luis, Su, Helen C, Torgerson, Troy R, Oksenhendler, Eric, Seppänen, Mikko R. J., Bousfiha, Aziz, Meyts, Isabelle, Puel, Anne, Seppänen, Mikko RJ, Puck, Jennifer, Picard, Capucine, Morio, Tomohiro, Al‑Herz, Waleed, Christoph, Klein, Cunningham Rundles, Charlotte, Franco Restrepo, José Luis, Kathleen E. Sullivan, Isabelle Meyts, Tomohiro Morio, Stuart G. Tangye, Aziz Bousfiha, Raz Somech, Christoph Klein, Troy R. Torgerson, Eric Oksenhendler, Capucine Picard, Helen C. Su, Waleed Al-Herz, Mikko R. J. Seppänen, Jennifer Puck, Anne Puel, Jose Luis Franco, Charlotte Cunningham-Rundles, Steven M. Holland   +46 more
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Human inborn errors of immunity: diagnosis and management [PDF]

Exploration of Immunology
Primary immunodeficiency disease (PID) now known as inborn errors of immunity (IEI) is genetic disorder(s) that impair the immune system. IEI is a heterogeneous group of diseases of more than 485 lifelong genetic disorders mainly due to intrinsic defect ...
Iftekhar Mahmood
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Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases [PDF]

Journal of Inherited Metabolic Disease, 2008
SummaryMultifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult‐onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism.
J. Vockley
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Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics, 2020
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, Tamar Ben-Yosef
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Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]

Case Medical Research, 2019
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A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

Antisense oligonucleotides (ASOs) are a versatile therapeutic modality for inborn genetic diseases. ASOs can induce skipping of ″dispensable″ exons containing disease-causing variants to rescue protein amount and function, but this approach has been ...
Bushra Haque, Ryan M Marks, Ashish R Deshwar, Logan Newton, Conor Klamann, Rebecca Sakaki, Yijing Liang, Thomas Qu, Chung Ting Tsoi, Evgueni A Ivakine, Gregory Costain, David Cheerie, Lauren Verhaeghe   +12 more
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Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
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