The plot includes categorical variables grouped by category: background (black circles), clinical course/pre-genetic classification (black triangles), laboratory tests (black crosses), and symptoms (open squares). Labels indicate the variable and its categorical level, such as IgG: Low or FH: Same. The horizontal axis represents the first dimension (X1), and the vertical axis represents the second dimension (X2). Age at onset is categorized as Young (less than 40 years) and Elder (greater than or equal to 40 years). Serum IgG levels are classified as Low (less than 1,350 milligrams per deciliter) and High (greater than or equal to 1,350 milligrams per deciliter). Lymphocyte counts are categorized as Low (less than 900 per microliter) and High (greater than or equal to 900 per microliter). Patients with pathogenic or likely pathogenic variants consistent with IEI are indicated by diagnostic labels as diagnosis: Mono. Genetically undiagnosed patients are marked as diagnosis: ND. The plot shows clusters and patterns of these variables, indicating the phenotypic overlap across the cohort. There is considerable overlap between patients with and without a final genetic diagnosis, suggesting the difficulty of distinguishing these populations clinically. However, patients with a confirmed final genetic diagnosis show relative proximity to family history.
MCA of clinical features in adult patients with suspected IEI. MCA biplot of categorical variables included in machine learning preprocessing. Features are grouped by category: background (black circles), clinical course/pre-genetic classification (black triangles), laboratory tests (black crosses), and symptoms (open squares). Labels indicate the variable and its categorical level, e.g., IgG: low or FH: same. Age at onset was categorized as young (<40 years) and elder (≥40 years). Serum IgG levels were classified as low (<1,350 mg/dl) and high (≥1,350 mg/dl). Lymphocyte counts were categorized as low (<900/μl) and high (≥900/μl). Patients with pathogenic/likely pathogenic variants consistent with IEI are indicated by diagnostic labels such as “diagnosis: Mono. ”Genetically undiagnosed patients are marked as “diagnosis: ND.” The two axes (X1 and X2) represent the first and second dimensions, respectively. ND, non-diagnostic; FH, family history; Lym, lymphocyte count; IgG, immunoglobulin G; Rep, repeated; NS, nonspecified; Therapeutic impact (±), treatment modification considered beneficial or not.