Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

MeSH terms

• Adolescent
• Amino Acid Substitution
• Autoimmune Lymphoproliferative Syndrome* / enzymology
• Autoimmune Lymphoproliferative Syndrome* / genetics
• Autoimmune Lymphoproliferative Syndrome* / pathology
• Caspase 8* / genetics
• Caspase 8* / metabolism
• Humans
• Inflammatory Bowel Diseases* / enzymology
• Inflammatory Bowel Diseases* / genetics
• Inflammatory Bowel Diseases* / pathology
• Male
• Mutation, Missense*
• Primary Immunodeficiency Diseases* / enzymology
• Primary Immunodeficiency Diseases* / genetics
• Primary Immunodeficiency Diseases* / pathology