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Hyper IgM syndrome
🧪 Hyper IgM Syndrome ➝ rare immunodeficiency with high IgM but low IgG, IgA, IgE. ⚠️ Patients are prone to opportunistic infections (e.g. PJP) and have an increased risk of lymphoma and other cancers.
ℹ️ About
- 🧬 Hyper IgM syndrome is a rare primary immunodeficiency.
- 🔼 IgM elevated, but ❌ IgG, IgA, IgE are absent or very low.
- 💉 Leads to recurrent bacterial & opportunistic infections, plus malignancy risk.
🧬 Aetiology
- Genetic forms:
- 🧑🧒 X-linked (most common) ➝ CD40 ligand gene mutation, primarily in boys.
- 🧬 Autosomal recessive ➝ defects in class-switch recombination pathways, affect both sexes.
- Acquired forms:
- 💊 Secondary to drugs (e.g. phenytoin).
- 🩸 Associated with malignancies such as leukaemia.
🩺 Clinical Features
- 📉 Failure to thrive ➝ poor growth, recurrent illness.
- 🫁 Frequent respiratory infections (pneumonia, sinusitis, otitis media).
- 🌾 Chronic diarrhoea and weight loss (GI involvement).
- ⚠️ Opportunistic infections ➝ especially Pneumocystis jirovecii pneumonia (PJP).
🔎 Differentials
- 🧪 Common Variable Immunodeficiency (CVID).
- 🧬 Severe Combined Immunodeficiency (SCID).
- Other primary immunodeficiencies.
🧪 Investigations
- 📊 Immunoglobulin profile: High IgM, low/absent IgG, IgA, IgE.
- 🩸 Neutropenia in some patients ➝ worsens infection risk.
💊 Management
- 💊 Antibiotics ➝ prompt treatment of infections.
- 🛡️ PJP prophylaxis (e.g. co-trimoxazole).
- 💉 Immunoglobulin replacement therapy ➝ IV/SC IgG infusions to prevent infections.
- 🌱 Stem cell transplantation ➝ potential curative option in severe forms.
📚 References
✏️ Revisions
- ⚡ Early recognition and aggressive management ➝ prevents life-threatening infections and complications.
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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