Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression

MeSH terms

• Autoimmune Lymphoproliferative Syndrome / diagnosis
• Autoimmune Lymphoproliferative Syndrome / etiology*
• Autoimmune Lymphoproliferative Syndrome / metabolism*
• Autoimmunity* / genetics
• Genetic Predisposition to Disease*
• Homozygote*
• Humans
• Immunophenotyping
• Lymphocyte Count
• Mutation*
• Pedigree
• T-Lymphocyte Subsets / immunology
• T-Lymphocyte Subsets / metabolism
• fas Receptor / genetics*
• fas Receptor / metabolism*