An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

MeSH terms

• Adult
• Anti-Inflammatory Agents / administration & dosage
• Anti-Inflammatory Agents / therapeutic use
• Autoimmune Diseases / diagnosis*
• Autoimmune Diseases / drug therapy
• Fatal Outcome
• Female
• Gain of Function Mutation*
• Humans
• Immunosuppressive Agents / therapeutic use
• Japan
• Phenotype
• Prednisolone / administration & dosage
• Prednisolone / therapeutic use
• Primary Immunodeficiency Diseases / diagnosis*
• Primary Immunodeficiency Diseases / drug therapy
• STAT1 Transcription Factor / genetics*
• Sequence Analysis, DNA
• Takayasu Arteritis / diagnosis*
• Takayasu Arteritis / drug therapy