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  • A rare genetic non-severe combined immunodeficiency disorder with characteristics of 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 cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.
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