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.
Alessandra Tiri +7 more
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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.
Hannes Lindahl +4 more
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Granulomatous inflammation in inborn errors of immunity [PDF]
Frontiers in Pediatrics, 2023 Granulomas have been defined as inflammatory infiltrates formed by recruitment of macrophages and T cells. The three-dimensional spherical structure typically consists of a central core of tissue resident macrophages which may merge into multinucleated ...
Keith A. Sacco +3 more
doaj +5 more sources
Repercussions of inborn errors of immunity on growth
Jornal de Pediatria (Versão em Português), 2019 Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the ...
Ekaterini Simões Goudouris +2 more
doaj +9 more sources
Inborn errors of immunity (primary immunodeficiencies) [PDF]
Allergy, Asthma & Clinical ImmunologyPrimary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function.
Vy H. D. Kim +4 more
doaj +3 more sources
Nature and nurture: understanding phenotypic variation in inborn errors of immunity [PDF]
Frontiers in Cellular and Infection Microbiology, 2023 The overall disease burden of pediatric infection is high, with widely varying clinical outcomes including death. Among the most vulnerable children, those with inborn errors of immunity, reduced penetrance and variable expressivity are common but poorly
Morgan Similuk, Taco Kuijpers
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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 ...
Stuart G Tangye +2 more
exaly +4 more sources
HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity [PDF]
Pathogens, 2022 Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with ...
Assiya El Kettani +7 more
doaj +2 more sources
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 [PDF]
Science, 2020 Qian Zhang, Paul Bastard, Zhiyong Liu
exaly +2 more sources
Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy [PDF]
MedicinaInborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system.
Nipat Chuleerarux +8 more
doaj +2 more sources