RFXANK
regulatory factor X associated ankyrin containing protein
Normal Function
Health Conditions Related to Genetic Changes
Bare lymphocyte syndrome type II
Mutations in the RFXANK gene are the most common genetic cause of an immune system disorder known as bare lymphocyte syndrome type II (BLS II). More than 40 mutations in this gene have been identified in affected individuals. BLS II is a type of combined immunodeficiency (CID), in which affected individuals have virtually no immune protection from foreign invaders. Consequently, individuals with BLS II have persistent infections in the respiratory, gastrointestinal, and urinary tracts, which can be life-threatening.
Mutations in the RFXANK gene lead to production of an altered protein that likely does not function properly. These changes impair binding of the RFX complex to DNA, which prevents transcription of MHC class II proteins. Consequently, lymphocytes lack any MHC class II proteins on their surface, and the body has difficulty getting rid of bacteria, viruses, and fungi, leading to the persistent infections characteristic of BLS II.
More About This Health ConditionRelated Conditions
Bare lymphocyte syndrome type II
Health Conditions Related to Genetic Changes
Mutations in the RFXANK gene are the most common genetic cause of an immune system disorder known as bare lymphocyte syndrome type II (BLS II). More than 40 mutations in this gene have been identified in affected individuals. BLS II is a type of combined immunodeficiency (CID), in which affected individuals have virtually no immune protection from foreign invaders. Consequently, individuals with BLS II have persistent infections in the respiratory, gastrointestinal, and urinary tracts, which can be life-threatening.
Mutations in the RFXANK gene lead to production of an altered protein that likely does not function properly. These changes impair binding of the RFX complex to DNA, which prevents transcription of MHC class II proteins. Consequently, lymphocytes lack any MHC class II proteins on their surface, and the body has difficulty getting rid of bacteria, viruses, and fungi, leading to the persistent infections characteristic of BLS II.