Inborn errors of immunity and cancer [PDF]
Biology, 2021 Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system.
Bertolini P. +7 more
core +7 more sources
The Ever-Increasing Array of Novel Inborn Errors of Immunity : an Interim Update by the IUIS Committee [PDF]
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.
Al-Herz, Waleed +17 more
core +3 more sources
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 ...
Al-Herz, Waleed +17 more
core +3 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 +18 more
core +2 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 +4 more
doaj +3 more sources
Epigenetic Alterations in Inborn Errors of Immunity [PDF]
Journal of Clinical Medicine, 2022 The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate ...
Andrea Riccio +12 more
core +2 more sources
Neuroinflammation Associated With Inborn Errors of Immunity [PDF]
Frontiers in Immunology, 2022 The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity.
Bryceson, Yenan, Lindahl, Hannes
core +2 more sources
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
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 +4 more
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 +45 more
semanticscholar +1 more source