Results 11 to 20 of about 7,598 (255)

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry. [PDF]

open access: greenFront Genet
Chavoshzadeh Z   +66 more
europepmc   +2 more sources

Failure of immunological competence: when to suspect?

open access: yesJornal de Pediatria, 2021
Objectives: To draw physicians’ attention to the different warning signs of diseases of inborn errors of immunity. Data sources: A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to ...
Fernanda Pinto-Mariz
doaj   +1 more source

Nature and nurture: understanding phenotypic variation in inborn errors of immunity

open access: yesFrontiers 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
doaj   +1 more source

Monogenic Adult-Onset Inborn Errors of Immunity

open access: yesFrontiers in Immunology, 2021
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
Frederik Staels   +15 more
doaj   +1 more source

RIPK1-Associated Inborn Errors of Innate Immunity

open access: yesFrontiers in Immunology, 2021
RIPK1 (receptor-interacting serine/threonine-protein kinase 1) is a key molecule for mediating apoptosis, necroptosis, and inflammatory pathways downstream of death receptors (DRs) and pattern recognition receptors (PRRs).
Jiahui Zhang   +6 more
doaj   +1 more source

Disseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity

open access: yesInternational Journal of Infectious Diseases, 2023
Tumor necrosis factor-a inhibitors can be associated with increased risk of infections, particularly reactivation of latent tuberculosis or nontuberculous mycobacterium (NTM). However, because disseminated NTM is rare, inborn errors of immunity should be
Jacqueline D. Squire   +8 more
doaj   +1 more source

Neuroinflammation Associated With Inborn Errors of Immunity

open access: yesFrontiers 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
doaj   +1 more source

Dendritic cells in inborn errors of immunity

open access: yesFrontiers in Immunology, 2023
Dendritic cells (DCs) are crucial cells for initiating and maintaining immune response. They play critical role in homeostasis, inflammation, and autoimmunity.
Sudhir Gupta, Anshu Agrawal
doaj   +1 more source

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