ALPS-like Disorder Linked with STAT3 Mutation: De novo Variant with Bicytopenia and Literature Review.

Abstract excerpt

INTRODUCTION: Autoimmune lymphoproliferative syndrome-like (ALPS-like) disorders are inherited conditions caused by non-FAS pathway mutations that clinically mimic ALPS, presenting with lymphoproliferation, autoimmunity, and cytopenias. This study describes a patient with STAT3-related ALPS-like disease that was initially misdiagnosed as ALPS and compares his clinical, immunological, and molecular features with...

Topics

• Humans
• STAT3 Transcription Factor
• Male
• Child
• Mutation
• Autoimmune Lymphoproliferative Syndrome