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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