Identifying potentially undiagnosed individuals with hyper-IgE syndrome using a scoring system

Area of Science:

• Immunology
• Genetics
• Epidemiology

Background:

• Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder.
• Diagnosis typically uses the National Institutes of Health (NIH) scoring system (score ≥ 15 suggests HIES).
• A specific HIES subtype, Zinc Finger 341 deficiency, is prevalent in an isolated Israeli population, but clinical HIES prevalence is unknown.

Purpose of the Study:

• To estimate the prevalence of potentially undiagnosed Hyper-IgE syndrome (HIES) cases.
• To utilize the NIH scoring criteria for population screening in an isolated Israeli community.

Main Methods:

• Retrospective cohort study analyzing electronic medical records from Clalit Health Services.
• NIH score computation using clinical and laboratory data for subjects in a study village and a neighboring control village.
• Comparative analysis of suspected HIES diagnosis rates between the two populations.

Main Results:

• Out of 29,390 subjects, 12 had diagnosed HIES, all in the study village (0.08% vs 0% in control, P < .01).
• The study village had 235 individuals (1.62%) with an NIH score ≥ 15, suggesting HIES.
• The control village had 130 individuals (0.87%) with an NIH score ≥ 15 (P < .001).

Conclusions:

• The NIH clinical score system was employed for population screening for the first time.
• A significant difference in suspected, undiagnosed HIES cases was observed between the study and control villages.
• The findings suggest the NIH scoring system's utility for preliminary HIES screening in populations.