Abstract:Background: Primary immune deficiencies are often accompanied by intestinal inflammation. A patient with severe combined immunodeficiency and dramatic inflammation along the gastrointestinal tract was diagnosed with a homozygous mutation in MALT1. Malt1 acts both as a scaffolding protein and a protease. The consequences of MALT1 immunodeficiency have largely been attributed to its role in lymphocytes. However, macrophages play an important role in gut inflammation and Malt1 is activated in macrophages downstre… Show more
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