Results 21 to 30 of about 7,759 (229)
Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases
Journal of Fungi, 2023 Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and ...
Peter Olbrich, Donald C. Vinh
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Treosulfan-based conditioning for inborn errors of immunity
Therapeutic Advances in Hematology, 2021 Inborn errors of immunity (IEI) are inherited disorders that lead to defects in the development and/or function of the immune system. The number of disorders that can be treated by haematopoietic stem-cell transplantation (HSCT) has increased rapidly ...
Mary A. Slatter, Andrew R. Gennery
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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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Inborn errors of immunity (primary immunodeficiencies)
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
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Editorial: Inborn errors of immunity and mucosal immunity
Frontiers in Immunology, 2023 Elena Wen-Yuan Hsieh +3 more
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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 +7 more sources
Current genetic diagnostics in inborn errors of immunity
Frontiers in PediatricsNew technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg +7 more
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Inborn errors of immunity in children with neuroinflammation
Developmental Medicine & Child NeurologyAbstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic ...
Eppie M Yiu +5 more
wiley +5 more sources
Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort [PDF]
Frontiers in ImmunologyInborn errors of immunity are a heterogeneous group of rare genetic disorders associated with susceptibility to infections, autoimmunity, allergy, and malignancy. Owing to marked clinical variability, phenotypic overlap, and limited access to specialized
Luiza de Mattos +22 more
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Editorial: Immune dysregulation in inborn errors of immunity
Frontiers in Pediatrics, 2023 Eveline Y. Wu +3 more
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