Results 31 to 40 of about 145,125 (343)

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

Journal of Clinical Immunology, 2020
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee.
S. Tangye, W. Al-Herz, A. Bousfiha, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, C. Picard, J. Puck, T. Torgerson, J. Casanova, K. Sullivan   +16 more
semanticscholar   +1 more source

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Science, 2022
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C.
Danyel Lee, J. Le Pen, A. Yatim, B. Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, E. Talouarn, Darawan Rinchai, Peng Zhang, M. Perret, Zhiyong Liu, I. Jordan, Şefika Elmas Bozdemir, G. Bayhan, C. Beaufils, Lucy Bizien, A. Bisiaux, Weite Lei, M. Hasan, Jie-Long Chen, Christina Gaughan, A. Asthana, V. Libri, Joseph M. Luna, F. Jaffré, Hans-Heinrich Hoffmann, E. Michailidis, Marion Moreews, Y. Seeleuthner, K. Bilguvar, Shrikant Mane, C. Flores, Yu Zhang, A. Arias, Rasheed A Bailey, A. Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, M. Materna, A. Gervais, M. Moncada-Vélez, Francesca Pala, T. Lazarov, R. Lévy, Anna-Lena Neehus, J. Rosain, Jesse R. Peel, Y. Chan, Marie‐Paule Morin, R. M. Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, J. Antón, S. Delafontaine, J. Toubiana, F. Bajolle, V. Fumado, M. DeDiego, N. Fidouh, F. Rozenberg, J. Pérez-Tur, Shuibing Chen, T. Evans, F. Geissmann, P. Lebon, S. Weiss, D. Bonnet, X. Duval, Q. Pan-Hammarström, A. Planas, I. Meyts, F. Haerynck, A. Pujol, V. Sancho-Shimizu, Cliffton L. Dalgard, J. Bustamante, A. Puel, S. Boisson-Dupuis, B. Boisson, T. Maniatis, Qian Zhang, Paul Bastard, L. Notarangelo, V. Béziat, R. Pérez de Diego, C. Rodríguez-Gallego, H. Su, R. Lifton, E. Jouanguy, A. Cobat, L. Alsina, S. Keleş, Elie Haddad, L. Abel, A. Belot, L. Quintana-Murci, C. Rice, R. Silverman, Shen-Ying Zhang, J. Casanova   +101 more
semanticscholar   +1 more source

Emphasized the diagnosis and therapy of curative neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
doaj   +1 more source

EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity

Bone Marrow Transplantation, 2021
A. C. Lankester 1, M. H. Albert , C. Booth, A. R. Gennery, T. Güngör , M. Hönig , E. C. Morris, D. Moshous , B. Neven, A. Schulz , M. Slatter, P.
A. Lankester, M. Albert, C. Booth, A. Gennery, T. Güngör, M. Hönig, E. Morris, D. Moshous, B. Neven, A. Schulz, M. Slatter, P. Veys   +11 more
semanticscholar   +1 more source

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management [PDF]

Journal of Movement Disorders, 2015
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron ...
Penelope Hogarth
doaj   +1 more source

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]

, 2019
This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim, Nisbet, Janelle, van der Meij, Barbara S., Wilkinson, Shelley A., Williams, Clare   +4 more
core   +1 more source

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings [PDF]

Vojnosanitetski Pregled, 2014
Introduction. Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively. We presented a rare atypical case of Wilson's disease with psychotic onset.
Krstić Dragan, Antonijević Jadranka, Špirić Željko   +2 more
doaj   +1 more source

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Orphanet Journal of Rare Diseases, 2022
Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we
Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jian-bin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao   +10 more
semanticscholar   +1 more source

Aspective et perspective dans la pensée égyptienne de l’histoire

Pallas, 2017
Aspective and perspective represent two conceptions of the world which at first sight seem incompatible, particularly where the passage of time is concerned : aspective and its predetermination would seem to preclude the very idea of history and ...
Christophe Barbotin
doaj   +1 more source

COVID-19 and Inborn Errors of Immunity

Physiology, 2022
Inborn errors of immunity (IEI) are a heterogeneous group of disorders affecting immune host defense and immunoregulation. Considering the predisposition to develop severe and chronic infections, it is crucial to understand the clinical evolution of ...
O. Delmonte, Riccardo Castagnoli, L. Notarangelo   +2 more
semanticscholar   +1 more source