Journal
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Volume 134, Issue 2, Pages 269-275Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2014.06.001
Keywords
MHC class I and II; immunodeficiency; regulatory factor X; class II transactivator; transporter associated with antigen processing I and II; tapasin
Categories
Ask authors/readers for more resources
Deficiencies of MHC complex class I or II are rare primary immunodeficiencies, both of which are inherited in an autosomal recessive pattern. MHC class II deficiency is a prototype of a disease of gene regulation. Defects in transacting regulatory factors required for expression of MHC class II genes, rather than the genes themselves, are responsible for the disease phenotype. The affected genes are known to encode 4 distinct regulatory factors controlling transcription of MHC class II genes. These transacting factors are the class II transactivator and 3 subunits of regulatory factor X (RFX): RFX containing ankyrin repeats (RFXANK), the fifth member of the RFX family (RFX5), and RFX-associated protein (RFXAP). Mutations in one of each define 4 distinct complementation groups termed A, B, C, and D, respectively. MHC class I deficiency is extremely rare and has been reported in less than 30 patients worldwide. Here we review the clinical, genetic, and molecular features that characterize these primary immunodeficiencies and discuss therapy options. Beyond the description of MHC class I and II deficiencies, their discovery has fascinated scientists and clinicians because of their ability to reveal the molecular basis of MCH regulation.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available