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. 2026 Feb 4;14(2):e71980.
doi: 10.1002/ccr3.71980. eCollection 2026 Feb.

STAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence

Hiroaki Sugiyama  1 , Yousuke Higuchi  1 , Shintaro Fujiwara  1 , Koki Aya  2 , Wataru Mukai  2 , Takafumi Goto  2
Affiliations

STAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence

Hiroaki Sugiyama et al. Clin Case Rep. .

Abstract

Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by eczema, recurrent staphylococcal infections, and significantly elevated serum IgE levels. An 18-year-old female presented with acute abdominal pain and was diagnosed with a retroperitoneal abscess. She had a history of recurrent skin abscesses, otitis media, and eczema since infancy, skeletal fractures, and retained primary teeth. Laboratory findings showed a serum IgE level above 20,150 U/L and a CRP of 180.30 mg/L. Methicillin-sensitive Staphylococcus aureus was cultured from the abscess drainage. The NIH-HIES score was 60 points. Genetic testing identified a heterozygous STAT3 variant (NM_139276.3: c.1145G>A, p.(Arg382Gln)), confirming autosomal-dominant HIES. This rare clinical presentation emphasizes the importance of considering HIES, even when deep-seated infections develop outside typical cutaneous or pulmonary sites.

Keywords: STAT3 variant; hyper‐IgE syndrome; methicillin‐sensitive Staphylococcus aureus; primary immunodeficiency disorder; retroperitoneal abscess.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Contrast‐enhanced abdominal CT (A: axial view, B: coronal view) scan shows a 10.5 cm multilocular retroperitoneal abscess with rim enhancement extending from the pelvis to the left inguinal area (circle). Arrows indicate scars from cutaneous abscesses.
FIGURE 2
FIGURE 2
Chest CT reveals a pulmonary cyst in the right upper lobe (circle).
See this image and copyright information in PMC

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