Obstructive uropathy in STAT 3 hyper immunoglobulin E syndrome: A 5 year old Middle Eastern boy

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Autosomal dominant hyper immunoglobulin E (IgE) syndrome is a rare primary immunodeficiency affecting approximately 1 in a million individuals.
• It is characterized by multisystem involvement, leading to diverse immunological and non-immunological manifestations.
• Recurrent skin and lung infections are typical clinical presentations.

Purpose of the Study:

• To report a rare case of autosomal dominant hyper IgE syndrome presenting with obstructive uropathy and severe abdominal abscesses in a pediatric patient.
• To highlight the diagnostic utility of whole exome sequencing in identifying STAT3 variants in complex cases.
• To emphasize the importance of prompt intervention and aggressive management for deep-seated infections in this syndrome.

Main Methods:

• Case report of a 5-year-old Middle Eastern boy.
• Clinical presentation included obstructive uropathy, pelviabdominal abscesses, and acute kidney injury.
• Genetic analysis using whole exome sequencing identified a heterozygous missense variant in the STAT3 gene.

Main Results:

• The patient presented with severe symptoms requiring intensive care unit admission.
• Genetic testing confirmed a STAT3 gene variant, consistent with autosomal dominant hyper IgE syndrome.
• The patient achieved complete recovery after initiating prophylactic antibiotics, with no further admissions.

Conclusions:

• This case underscores that deep-seated infections, though uncommon, can be a severe manifestation of STAT3-associated hyper IgE syndrome.
• Prompt diagnosis and management, including prophylactic antibiotics, are vital for favorable outcomes.
• Whole exome sequencing is a valuable tool for diagnosing genetic immune disorders like hyper IgE syndrome.