JUL 31, 2026 · JOURNAL ARTICLE
Beyond Infections: Clinical and Genetic Spectrum of Pediatric Immune Dysregulation Disorders
The Journal of Pediatric Research
Single-center retrospective cohort of 21 children describing clinical and genetic spectrum of rare immune dysregulation disorders; descriptive analysis without comparator or control group, providing phenotypic characterization rather than outcome evidence.
Reported
Median diagnostic delay28 months
Interquartile range for diagnosti…8–105.5 months
Parental consanguinity71.4%