Results 201 to 210 of about 28,424 (265)

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

Inborn errors of immunity at school: How can we do better? [PDF]

J Hum Immun
Lopez-Seguer L, Rodriguez-Tello S, Gonzalez-Amores M, Martin-Nalda A, Zelada S, Ridao Manonellas S, Galindo-Maycas S, Villar C, Riviere JG, Soler-Palacin P.   +9 more
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency. [PDF]

RMD Open
Atschekzei F, Dubrowinskaja N, Anim M, Steinemann D, von Hardenberg S, Hofmann W, Geffers R, Witte T, Sogkas G.   +8 more
europepmc   +1 more source

Retrieval-Augmented Language Models for Clinical Decision Support in the Classification of Inborn Errors of Immunity. [PDF]

J Clin Immunol
Arzehgar A, Varasteh Yazdi S, Ahanchian H, Eslami S.   +3 more
europepmc   +1 more source

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. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all
Andrea Pession, Riccardo Masetti, Francesca Conti   +2 more
exaly   +5 more sources

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Inborn Errors of Immunity

Medical Clinics of North America, 2023
Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
openaire   +3 more sources