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Updated: May 18, 2026
04:44
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Hyper IgM syndrome presenting as chronic suppurative lung disease
Silvia Montella1, Marco Maglione, Giuliana Giardino
1Department of Pediatrics, Federico II University, via Pansini 5, Naples, 80131, Italy.
Italian Journal of Pediatrics
|September 21, 2012
Summary
Hyper-immunoglobulin M syndromes (HIGM) are rare genetic disorders affecting immunoglobulin class switching. This case highlights HIGM diagnosis through clinical and B cell analysis, despite unidentified genetic cause.
Area of Science:
- Immunology
- Genetics
Background:
- Hyper-immunoglobulin M syndromes (HIGM) are a group of genetic disorders characterized by defective immunoglobulin class switch recombination.
- Patients typically present with humoral immunodeficiency, increased susceptibility to opportunistic infections, elevated serum IgM, and low levels of other immunoglobulins (IgG, IgA, IgE).
Observation:
- The described patient experienced recurrent respiratory infections and lung disease.
- Clinical presentation included low serum IgG and IgA, elevated IgM, and a significant reduction in switched memory B cells.
Findings:
- A clinical and functional diagnosis of HIGM was established based on the observed immunological profile.
- Despite characteristic symptoms and laboratory findings, the specific genetic mutation causing HIGM in this patient remained unidentified.
Implications:
- This case underscores the importance of clinical and functional assessments in diagnosing HIGM, even when genetic etiology is elusive.
- Further research into the genetic underpinnings of HIGM is crucial for comprehensive understanding and potential therapeutic strategies.
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