An 18-year-old patient's retroperitoneal abscess led to the diagnosis of autosomal-dominant hyperimmunoglobulin E syndrome, a case that illustrates how this rare immunodeficiency can remain undiagnosed into adulthood despite the presence of characteristic clinical features.
In the case report, researchers described an adolescent female who presented to the emergency department with acute lower abdominal pain, high fever, and “severe midline lower abdominal tenderness with a guarding reflex.” Contrast-enhanced computed tomography revealed a 10.5-cm multilocular retroperitoneal abscess extending from the pelvis to the inguinal region. Gram-positive cocci were identified on aspiration, and methicillin-sensitive Staphylococcus aureus (MSSA) was cultured from drainage.
Although the abscess prompted aspiration and antibiotic management, her broader clinical history told a more revealing story. Since infancy, she had experienced severe eczema beginning at two days of age, recurrent skin abscesses affecting the face, abdomen, and groin, repeated episodes of otitis media, multiple fractures with minor trauma, and retention of four primary teeth at age 13 years. Physical examination showed a mildly prominent forehead, broad nasal bridge, high-arched palate, and submucous cleft palate. Laboratory testing demonstrated markedly elevated serum immunoglobulin E levels exceeding 20,150 U/mL and a C-reactive protein of 180.30 mg/L.
While these findings had previously raised suspicion for hyperimmunoglobulin E syndrome (HIES), genetic testing had not been performed at the time because of limited access to the relevant tests. After the retroperitoneal abscess and subsequent imaging revealed pulmonary cysts, her National Institutes of Health HIES score reached 60 points, strongly supporting the diagnosis. Targeted genetic testing identified a heterozygous STAT3 variant (c.1145G>A; p.Arg382Gln), confirming autosomal-dominant HIES.
For pediatric clinicians, the case highlights several notable points. HIES, also known as “Job’s syndrome”, is characterized by eczema, recurrent staphylococcal infections, markedly elevated immunoglobulin E levels, skeletal abnormalities, and distinctive facial features. However, these manifestations often overlap with more common atopic or infectious conditions, contributing to the diagnostic delay evidenced in this case report. Such delays can allow cumulative complications, including lung cysts, bronchiectasis, and deep-seated infections.
Retroperitoneal abscess is an especially uncommon presentation. In HIES, infections typically involve the skin and lungs. The researchers reported that impaired STAT3 signaling disrupts Th17 cell differentiation, weakening mucosal defense and predisposing patients to recurrent Staphylococcus aureus infections. Deep infections, although rare, may arise when immune dysfunction extends beyond cutaneous and pulmonary sites.
Another teaching point is that inflammatory markers may be misleading. Patients with HIES may develop so-called “cold” abscesses with muted inflammatory signs, potentially delaying recognition of infection.
The patient’s retroperitoneal abscess resolved following aspiration and intravenous cefazolin, and she was discharged on day 14 with prophylactic trimethoprim-sulfamethoxazole.
The researchers note that pediatricians should maintain suspicion for HIES in patients with recurrent staphylococcal infections, eczema, elevated immunoglobulin E levels, skeletal abnormalities, and dental anomalies – even when presentation occurs in adolescence or involves unusual deep-seated infections.
For a clinical pediatric audience, the case reinforces a central lesson: when recurrent infections and atopic features cluster together over time, rare immunodeficiency should remain on the differential diagnosis.
The authors declared no conflicts of interest.
Source: Clinical Case Reports
