Article

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disorders

2025-03-03

Abstract excerpt

Inborn errors of immunity (IEI), formerly known as primary immune deficiencies (PID), are a group of genetic disorders that affect the immune system, leading to increased susceptibility to infections, autoimmunity, allergy, and cancer. So far, 449 IEI-causing genes have been identified with more likely to be discovered with the rapid adoption of whole genome sequencing in clinical practice. Patients with IEI often...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e72ae31b-fdc7-5a24-bae3-3a1ae137b71e
DOI: 10.1101/2025.03.01.25323148

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disordersDOI 10.1101/2025.03.01.25323148Read

Inborn errors of immunity—recent advances in research on the pathogenesisSemantic proximity Read

Genetic diagnosis of inborn errors of immunity using clinical exome sequencingSemantic proximity Read

Updates on new monogenic inborn errors of immunity.Semantic proximity Read

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort.Semantic proximity Read

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.Semantic proximity Read

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity.Semantic proximity Read

Monogenic Adult-Onset Inborn Errors of Immunity.Semantic proximity Read

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.Semantic proximity Read

Genetics in inborn errors of immunity: pediatric autoinflammatory phenotypes and the underlying genetic causes in 125 familiesSemantic proximity Read

NGS data analysis for molecular diagnosis of Inborn Errors of Immunity.Semantic proximity Read

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.Semantic proximity Read

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approachSemantic proximity Read