Results 21 to 30 of about 145,125 (343)

Inborn errors of human B cell development, differentiation, and function

Journal of Experimental Medicine, 2023
The fundamental importance of the role of human B cells in host defense against infectious diseases has been established by the discovery of inborn errors of immunity that disrupt B cell development, differentiation, or function. These findings have laid
S. Tangye, Tina Nguyen, E. Deenick, V. Bryant, Cindy S. Ma   +4 more
semanticscholar   +1 more source

Morbidity and mortality profile of neonates admitted in a special care newborn unit of a tertiary care teaching hospital of Assam, India [PDF]

New Indian Journal of OBGYN, 2020
Objectives: The objective of study is to estimate the morbidity and mortality of newborns admitted at Special Care Newborn Unit (SCNU) of tertiary care hospital.
Kutubur Rahman, Rukeya Begum
doaj   +1 more source

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Journal of Experimental Medicine, 2022
In an international cohort of 112 children hospitalized for moderate to critical COVID-19 pneumonia, we identified 12 children with one of four known recessive inborn errors of type I interferon immunity: X-linked TLR7 and autosomal IFNAR1, STAT2, and ...
Qian Zhang, D. Matuozzo, J. Le Pen, Danyel Lee, Leen Moens, Takaki Asano, J. Bohlen, Zhiyong Liu, M. Moncada-Vélez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, S. Delafontaine, G. Bucciol, G. Bayhan, S. Keleş, A. Kıykım, S. Hancerli, F. Haerynck, B. Florkin, N. Hatipoğlu, T. Ozcelik, G. Morelle, M. Zatz, L. Ng, D. Lye, B. Young, Y. Leo, Cliffton L. Dalgard, R. Lifton, L. Rénia, I. Meyts, E. Jouanguy, L. Hammarström, Q. Pan-Hammarström, B. Boisson, Paul Bastard, H. Su, S. Boisson-Dupuis, L. Abel, C. Rice, Shen-Ying Zhang, A. Cobat, J. Casanova   +45 more
semanticscholar   +1 more source

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Science, 2020
The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs).
Qian Zhang, Paul Bastard, Zhiyong Liu, J. Le Pen, M. Moncada-Vélez, Jie Chen, Masato Ogishi, Ira K. D. Sabli, Stephanie Hodeib, Cecilia Korol, J. Rosain, K. Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, A. Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Q. Philippot, Marwa Chbihi, Lucie Bonnet-Madin, K. Dorgham, Nikaïa Smith, W. Schneider, B. Razooky, Hans-Heinrich Hoffmann, E. Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, A. Ugurbil, A. Corneau, Gaspard Kerner, P. Zhang, Franck Rapaport, Y. Seeleuthner, J. Manry, C. Masson, Y. Schmitt, A. Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, J. Fellay, Lucie Roussel, Mohammad Shahrooei, M. Alosaimi, D. Mansouri, H. Al‐Saud, Fahd Al-Mulla, F. Almourfi, S. Al‐Muhsen, F. Alsohime, Saeed H. Al Turki, R. Hasanato, D. van de Beek, A. Biondi, L. Bettini, M. D'Angiò, P. Bonfanti, L. Imberti, A. Sottini, S. Paghera, E. Quiros-Roldan, Camillo Rossi, Andrew J. Oler, Miranda F. Tompkins, C. Alba, I. Vandernoot, J. Goffard, G. Smits, I. Migeotte, F. Haerynck, P. Soler-Palacín, A. Martín-Nalda, R. Colobran, P. Morange, S. Keleş, Fatma Çölkesen, T. Ozcelik, K. Yasar, S. Şenoğlu, Ş. Karabela, C. Rodríguez-Gallego, G. Novelli, S. Hraiech, Yacine Tandjaoui-Lambiotte, X. Duval, C. Laouénan, A. Snow, Cliffton L. Dalgard, J. Milner, D. Vinh, T. Mogensen, N. Marr, A. Spaan, B. Boisson, S. Boisson-Dupuis, J. Bustamante, A. Puel, Michael J. Ciancanelli, I. Meyts, T. Maniatis, V. Soumelis, A. Amara, M. Nussenzweig, A. García-Sastre, F. Krammer, A. Pujol, D. Duffy, R. Lifton, Shen-Ying Zhang, G. Gorochov, V. Béziat, E. Jouanguy, V. Sancho-Shimizu, C. Rice, L. Abel, L. Notarangelo, A. Cobat, H. Su, J. Casanova   +128 more
semanticscholar   +1 more source

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

Journal of Clinical Immunology, 2021
The 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.
S. Tangye, W. Al-Herz, A. Bousfiha, C. Cunningham-Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, C. Picard, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +17 more
semanticscholar   +1 more source

Application of muscle MRI in diagnosis of hereditary myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders.
SONG Jia, PANG Mi, LI Gang, FU Jun, MA Ming⁃ming   +4 more
doaj   +1 more source

Inborn Errors of Purine Salvage and Catabolism

Metabolites, 2023
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted ...
M. Camici, M. Garcia-Gil, S. Allegrini, R. Pesi, G. Bernardini, V. Micheli, M. Tozzi   +6 more
semanticscholar   +1 more source

Advances in quantitative MRI of hereditary myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin, LI Gui⁃dian, HE Rong⁃xing, WANG Liang, ZHANG Cheng   +4 more
doaj   +1 more source

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 more
core   +1 more source

Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]

Vojnosanitetski Pregled, 2012
Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan, Koraćević Goran, Pavlica Tatjana, Sekulić Slobodan   +3 more
doaj   +1 more source