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MHC class II deficiency

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Description

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.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

730

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Genes

External Links

  • OMIM

    209920

  • Orphanet

    572

  • HPO
  • Medgen

    C2931418

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