Homozygous mutations in these genes lead to MHC-II Deficiency Syndrome and have been associated with early onset and severe respiratory and gastrointestinal infections, failure to thrive, and premature death. The genes that encode the MHCII include the Regulatory Factor X-Associated Ankyrin Containing Protein (RFXANK), Regulatory Factor X-Associated Protein (RFXAP), Regulatory Factor X, 5 (RFX5), and MHC-II transactivator (CIITA) proteins. Introduction/Background: Major Histocompatibility Class II (MHC-II) molecules are transmembrane proteins that are essential to the development of the normal adaptive immune response. Lauren Rigg, MD 1, Neha Sanan, DO 2, Devi Jhaveri, DO 3, Haig Tcheurekdjian, MD 3ġInternal Medicine Resident, University Hospitals Cleveland Medical Center / Case Western Reserve UniversityĢAdult and Pediatric Allergy / Immunology Fellow, University Hospitals Cleveland Medical CenterģAllergy / Immunology, Allergy Immunology Associates Two Novel Mutations of Major Histocompatibility Class-II Associated Molecules
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