Results 11 to 20 of about 145,125 (343)

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity [PDF]

Journal of Clinical Immunology, 2017
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee.
Capucine Pïcard, H. Bobby Gaspar, Waleed Al–Herz, Aziz Bousfiha, Jean‐Laurent Casanova, Talal A. Chatila, Yanick J. Crow, Charlotte Cunningham‐Rundles, Amos Etzioni, José Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Éric Oksenhendler, Jennifer M. Puck, Mimi L.K. Tang, Stuart G. Tangye, Troy R. Torgerson, Kathleen E. Sullivan   +19 more
openalex   +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 ...
A. Bousfiha, L. Jeddane, C. Picard, W. Al-Herz, F. Ailal, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, J. Puck, T. Torgerson, J. Casanova, K. Sullivan, S. Tangye   +18 more
semanticscholar   +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

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

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 ...
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

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

MR Neuroimaging in Pediatric Inborn Errors of Metabolism

Diagnostics, 2022
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early.
Lillian M. Lai, Andrea L. Gropman, Matthew T. Whitehead   +2 more
doaj   +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

Neonatal mortality among outborn versus inborn babies

Pediatrics and Neonatology, 2021
Background: Most previous studies reported there were higher survival rates if low birth weight babies were born in tertiary perinatal centers (inborn) than elsewhere (outborn).
Wan-Hsuan Chen, Chung-Hao Su, Li-Chun Lin, Hsin-Ching Lin, Ying-Jui Lin, Hsin-Yi Hsieh, Jiunn-Ming Sheen, Chien-Te Lee   +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