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

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.
Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +16 more
core   +2 more sources

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

Journal of Clinical Immunology, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core   +2 more sources

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

Metabolites, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +3 more sources

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum [PDF]

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +3 more sources

Morbidity and Mortality Profile of Neonates Admitted in Special Newborn Care Unit in a Tertiary Care Hospital: A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Newborn period is the most vulnerable phase of life and deaths during first 28 days of life account for 70% of all infant deaths and 56% of all deaths of under-5 year in children.
Mahibur Rahman, Gayatri Bezboruah, Monalisa Bhoktiari   +2 more
doaj   +1 more source

Congenital anomalies in Santa Catarina: case distribution and trends in 2010–2018

Revista Paulista de Pediatria, 2021
Objective: To evaluate the distribution of cases of congenital anomalies in the state of Santa Catarina by health macro-region, to determine the frequency according to maternal and neonatal variables, to estimate the related mortality, and the trends in ...
Bruna Muraro Vanassi, Gabriel Cremona Parma, Vivyane Santiago Magalhaes, Augusto César Cardoso dos Santos, Betine Pinto Moehlecke Iser   +4 more
doaj   +2 more sources

Analysis of the Incidence and Risk Factors of Precocious Puberty in Girls during the COVID-19 Pandemic

International Journal of Endocrinology, 2022
Home quarantine due to the global coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on children. Lifestyle changes have led to an increase in precocious puberty (PP) among girls, and the underlying risk factors for this remain ...
Dongxia Fu, Tao Li, Yingxian Zhang, Huizhen Wang, Xue Wu, Yongxing Chen, Bingyan Cao, Haiyan Wei   +7 more
doaj   +1 more source

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

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 ...
J. Casanova, Mark S. Anderson
semanticscholar   +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, L. 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, C. Dalgard, R. Lifton, L. Rénia, I. Meyts, E. Jouanguy, L. Hammarström, Q. Pan-Hammarström, B. Boisson, P. Bastard, H. Su, S. Boisson-Dupuis, L. Abel, C. Rice, Shen-Ying Zhang, A. Cobat, J. Casanova   +45 more
semanticscholar   +1 more source

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene [PDF]

Vojnosanitetski Pregled, 2015
Background/Aim. Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy.
Žarkov Marija, Stojadinović Aleksandra, Sekulić Slobodan, Barjaktarović Iva, Stojiljković Olivera, Perić Stojan, Keković Goran, Drašković Biljana, Stević Zorica   +8 more
doaj   +1 more source