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Patients with mutations in μ heavy chain tend to develop symptoms earlier and are more likely to have severe symptoms. Symptoms present initially at the age of few months with pneumonia, otitis, gastroenteritis, chronic enterovirus enchephalitis, and Pseudomonas aeruginosa septic shock. Recurrent infections, mostly respiratory, with pyogenic
bacteria, chronic diarrhoea and hypogammaglobulinemia are also present.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- (Intravenous) immunoglobulins and antibiotic therapy. Oral poliovaccine should not be given because of the risk of paralytic disease.
- Hypogammaglobulinemia, eMedicine