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Definition

A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.

Acronym

IMD43

Synonyms

B2M deficiency
Beta-2-microglobulin deficiency
Hypercatabolic hypoproteinemia
Hypoproteinemia, hypercatabolic

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.