Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research.

Abstract excerpt

Background: Inborn errors of immunity are rare, genetically heterogeneous disorders requiring coordinated clinical, laboratory, and genetic evaluation over time. Data are often fragmented across records, laboratory systems, and genomic reports, limiting longitudinal analysis and coordinated care, particularly in the Middle East and North Africa, where structured rare disease data infrastructures remain limited....

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