The following is a summary of “GenIA, the Genetic Immunology Advisor database for inborn errors of immunity,” published in the March 2024 issue of Allergy & Immunology by Caballero-Oteyza, et al.

Existing platforms still need to comprehensively synthesize genotypic, phenotypic, and mechanistic information on inborn errors of immunity (IEIs), contributing to low diagnosis rates. Creating a platform to aggregate and analyze IEI data could enhance diagnosis rates. For a study, researchers sought to develop an expert-curated, patient-centered IEI database facilitating data aggregation, sophisticated analysis, and community involvement.

The database, named Genetic Immunology Advisor (GenIA), was structured following a subject-centered model using Structured Query Language (SQL). The web application was developed with PHP, HTML, CSS, and JavaScript. Data extraction involved a manual review of published research articles.

Data collection and curation were completed for 24 pilot genes. GenIA demonstrates how it provides quick access to structured, longitudinal IEI knowledge, surpassing existing databases like ClinGen, Human Phenotype Ontology (HPO), ClinVar, or Online Mendelian Inheritance in Man (OMIM).

GenIA aimed to accurately capture genetic, mechanistic, and phenotypic heterogeneity in IEIs, addressing genetic paradigms and diagnostic pitfalls. Involvement from the IEI community will promote GenIA as a lasting resource for knowledge sharing, research, diagnosis, and patient care in genetic immune diseases.

Reference: jacionline.org/article/S0091-6749(23)01513-0/fulltext