Improving clinical practice through patient registries in allergy and immunology

A Moore, KG Blumenthal, C Chambers… - The Journal of Allergy …, 2024 - Elsevier
Patient registries are a mechanism for collecting data on allergic and immunologic diseases
that provide important information on epidemiology and outcomes that can ultimately …

Newborn screening for SCID and severe T lymphocytopenia in Europe

M Blom, M Soomann, P Soler-Palacín, A Šedivá… - Journal of Allergy and …, 2024 - Elsevier
Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of
the most recent expansions of NBS programs was the addition of severe combined …

[HTML][HTML] Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

EE Vorsteveld, CI Van der Made, SP Smeekens… - Clinical …, 2024 - Elsevier
While next generation sequencing has expanded the scientific understanding of Inborn
Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging …

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders

E Baum, W Huang, C Vincent-Delorme… - International Journal of …, 2024 - mdpi.com
Heterozygous variants in the Poly (U) Binding Splicing Factor 60kDa gene (PUF60) have
been associated with Verheij syndrome, which has the key features of coloboma, short …

Inborn errors of immunity in the Republic of Moldova: advances and hope

S Sciuca, C Tomacinschii, R Selevestru… - Journal of Clinical …, 2023 - Springer
To the Editor: Inborn errors of immunity (IEI), also known as primary immunodeficiencies
(PID), are congenital diseases result‑ing in susceptibility to infections, immune …

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

M Bataneant, M Belevtsev, S Şciuca - Frontiers in Immunology, 2022 - ibn.idsi.md
Rezumat Introduction: The J Project (JP) physician education and clinical research
collaboration program was started in 2004 and includes by now 32 countries mostly in …

[PDF][PDF] Historical Perspective of Inborn Errors of Immunity in Turkey.

Y Camcıoğlu - Turkish Journal of Immunology, 2024 - jag.journalagent.com
This article details the development of immunology as a scientific discipline based on basic
research and clinical application in Turkey. Due to the valiant efforts of the Turkish Society of …

Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India

S Bhattad, RS Mohite, N Singh, U Kotecha… - Clinical and …, 2023 - Springer
Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of
disorders that predispose affected individuals to infections, allergy, autoimmunity …

Inborn errors of immunity: features of epidemiology and continuity of medical care in the Republic of Tatarstan

OV Skorokhodkina, AV Luntsov… - Russian Journal of …, 2024 - journals.rcsi.science
BACKGROUND: Currently, inborn errors of immunity represent one of the most interesting
problems in clinical immunology. The data obtained in the field of studying pathogenetic …