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Hyper-IgM syndrome: report of one case
Yi-Chun Ma1, Shyh-Dar Shyur, Li-Hsin Huang
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|May 5, 2005
Summary
Hyper-IgM syndrome (HIM) is a rare immunodeficiency. This case study confirms HIM in a boy with low IgG and high IgM, linked to CD40 ligand defects, successfully managed with IVIG and antibiotics.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Hyper-IgM syndrome (HIM) is a primary immunodeficiency characterized by defective CD40 ligand (CD40L)/CD40 signaling.
- Patients present with recurrent infections, low IgG, IgA, IgE, and normal/high IgM.
Observation:
- A 5-month-old boy experienced severe pneumonia unresponsive to antibiotics.
- Plasma analysis revealed high IgM (128 mg/dl) and low IgG (18 mg/dl), IgE (1 IU/ml), IgA (4 mg/dl).
- Flow cytometry showed significantly reduced CD40L expression (0.48%) on activated T cells compared to healthy controls (33.54%).
Findings:
- The patient was diagnosed with HIM based on clinical presentation and confirmed by deficient CD40L expression.
- Intravenous immunoglobulin (IVIG) treatment improved pneumonia, and IgM levels normalized by 15 months.
- The patient's family members exhibited normal CD40L expression, suggesting a de novo mutation or X-linked inheritance.
Implications:
- This case highlights the importance of early diagnosis of HIM for timely intervention.
- Management with IVIG and prophylactic antibiotics (trimethoprim-sulfamethoxazole) effectively prevented recurrent infections.
- Understanding CD40L pathway defects is crucial for managing primary immunodeficiencies and guiding genetic counseling.