Definition
Inborn error of immunity (Primary Immunodeficiency) classically characterized by the triad of: very high IgE levels serum, recurrent cutaneous staphylococcal abscesses y recurrent pneumonia with pneumatoceles formation.
Causes and Epidemiology
- Genetics: Dominant negative mutations in the gene STAT3 (75% of cases). There are recessive variants (e.g. DOCK8) with varied clinical manifestations (more viral/allergic).
- Epidemiology: Very rare. Approximate incidence of 1 per 1,000,000 births. No gender predilection.
Diagnosis
It is fundamentally clinical at the beginning, supported by complementary tests:
- NIH (National Institutes of Health) score > 40 points.
- Serum IgE in the acute phase > 2000 IU/mL (although it can decrease in adults).
- Prominent eosinophilia.
- Genetic confirmation (STAT3/DOCK8 gene sequencing).
Management in Emergencies
Be careful with abscesses: they are often "cold" (without classic signs of acute inflammation such as heat or extensive erythema) due to neutrophil chemotactic defect.
- Early suspicion of bacterial pulmonary complications (S. aureus, H. influenzae) or fungal (Aspergillus in pneumatoceles).
- Drainage of large abscesses.
- Early and aggressive antibiotic coverage.
This is a tool rapid screening for emergencies adapted from the NIH Score for HIES due to STAT3 mutation. Select the findings present in the pediatric patient.