Combined immunodeficiency due to IL21R deficiency


Engelsk navn: Combined immunodeficiency due to IL21R deficiency


Definisjon

A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.

Fra Orphanet

ORPHA: 357329
Klassifiseringsnivå: Disorder
ICD-10: D81.8

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Mer informasjon

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