MHC class II deficiency

MONDO:0008855

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

Also known as: HLA class 2-negative SCID, HLA class 2-negative severe combined immunodeficiency, MHC class II expression deficiency, immunodeficiency by defective expression of HLA class type 2, major histocompatibility complex class II expression deficiency, BARE lymphocyte syndrome, BARE lymphocyte syndrome, type II, BARE lymphocyte syndrome, type II, complementation group B, included

17 clinical trials for this condition and its sub-types.

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