TH17 Cells in STAT3 Related Hyper-IgE Syndrome

Area of Science:

• Immunology
• Genetics

Background:

• Hyper IgE syndrome (HIES) is a primary immunodeficiency characterized by eczema, recurrent infections, and high IgE levels.
• STAT3 mutations are common in HIES, influencing disease severity and clinical presentation.

Purpose of the Study:

• To evaluate the diagnostic utility of T helper 17 (TH17) cell enumeration compared to the National Institutes of Health (NIH) scoring system in diagnosing HIES.
• To determine the correlation between STAT3 mutation status, TH17 cell counts, and NIH scores in HIES patients.

Main Methods:

• Clinical data from 19 HIES patients and 20 healthy controls were analyzed.
• Absolute eosinophil count, serum IgE levels, and TH17 cell numbers were measured.
• Patients were stratified based on the presence or absence of STAT3 mutations and NIH scores.

Main Results:

• Serum IgE levels were significantly higher in HIES patients compared to controls (p < 0.05).
• NIH scores > 40 were observed in 6 patients, with 4 having STAT3 mutations.
• TH17 cells were markedly reduced in all HIES patients with STAT3 mutations, but not in those without.

Conclusions:

• Low TH17 cell counts, in conjunction with NIH scores, serve as a valuable indicator for identifying STAT3 mutations in HIES.
• This combined approach enhances diagnostic precision for STAT3-related HIES.