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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 572
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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