Diagnosing Hyper IgE Syndrome in a Resource-Limited Setting: A Case Report Highlighting the Utility of Clinical Scoring and Multidisciplinary Management.

BACKGROUND: Hyperimmunoglobulin E syndrome (HIES), also known as Job's syndrome, is an uncommon primary immunodeficiency disorder characterized by markedly elevated serum IgE levels, recurrent infections, both bacterial and fungal, and distinct skeletal and connective tissue anomalies. This report discusses the case of a 3-year-old female patient who presented with a history of recurrent chest infections, pustule formation, and local abscesses, and investigation revealed high levels of IgE, and she was eventually diagnosed with HIES.

CASE PRESENTATION: A 3-year-old girl from Karachi presented with a 1-year history of recurrent pustular skin eruptions initially involving the scalp and face, later spreading across the body. The lesions appeared in clusters, drained pus, resolved with pigmentation changes, and recurred every few weeks. She also had recurrent fever, episodes of diarrhea, frequent upper respiratory tract infections (URTIs), and poor weight gain. Her past treatment included multiple oral antibiotics and incision and drainage of an axillary abscess. On examination, she appeared pale, undernourished, and had widespread pustular lesions and localized abscesses, particularly over the parotid and neck regions, along with palpable cervical lymphadenopathy. Laboratory findings showed microcytic anemia, eosinophilia, leukocytosis, elevated ESR (erythrocyte sedimentation rate), and significantly raised serum IgE (7162 IU/mL), with normal IgG, IgM, and IgA levels. Methicillin-resistant Staphylococcus aureus (MRSA) was isolated from skin cultures, E. coli from blood culture, and Giardia lamblia from stool. A lymph node biopsy confirmed suppurative lymphadenitis. Based on clinical features and immunological profile, a diagnosis of Hyper IgE Syndrome was made, although genetic confirmation could not be obtained due to limited resources.

CONCLUSION: Early recognition is essential to prevent complications, guide appropriate management, and offer genetic counseling. This case emphasizes the importance of maintaining a high index of suspicion in patients with recurrent infections.