RFX5
regulatory factor X5
Normal Function
Health Conditions Related to Genetic Changes
Bare lymphocyte syndrome type II
At least seven mutations in the RFX5 gene have been found to cause an immune system disorder called bare lymphocyte syndrome type II (BLS II). 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 RFX5 gene lead to production of an abnormally short RFX5 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
At least seven mutations in the RFX5 gene have been found to cause an immune system disorder called bare lymphocyte syndrome type II (BLS II). 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 RFX5 gene lead to production of an abnormally short RFX5 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.