Pediatric Congenital Analbuminemia: Clinical, Coagulation, and Immune Signatures

A longitudinal integrative study of five children from two kindreds with genetically confirmed congenital analbuminemia (CAA). The dataset, authored by Asena Pinar Sefer and last updated in June 2026, includes detailed clinical features, extended coagulation tests, and immunological profiling. It is a 135.8 KB PDF document describing the study's findings.

Use Cases

• Identifying clinical phenotypes associated with congenital analbuminemia based on documented features like edema, gastrointestinal morbidity, and dyslipidemia.
• Analyzing prothrombotic signatures based on coagulation profiling results including elevated fibrinogen, D-dimer, and FXI activity.
• Studying immune dysregulation patterns based on immunological evaluations such as skewed CD4⁺ T cell subsets and vaccine responses.
• Correlating specific genetic mutations (e.g., ALB splice-site or frameshift variants) with multisystem clinical manifestations.

Strengths

• Includes longitudinal data from five pediatric patients, providing a detailed case series.
• Integrates multiple data types: genetic confirmation, clinical documentation, coagulation tests, and immunological profiling.
• Published under a permissive CC-BY-4.0 license, allowing for reuse and redistribution.

Limitations

• The dataset is described in a 135.8 KB PDF; the underlying raw data tables are not provided, limiting direct analysis.
• Row count and column-level documentation are unknown, requiring manual inspection of the document.
• The small sample size of five patients from two families may limit the generalizability of findings.

Provenance

Source

figshare, authored by Asena Pinar Sefer.

Collection Method

Longitudinal integrative study involving clinical documentation, genetic testing, and laboratory profiling.

Freshness

Last updated 2026-06-02 05:39:06.