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Journal of Clinical Immunology

, Volume 39, Supplement 1, pp 1–151 | Cite as

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

Abstracts
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Submission ID#551389

Two Novel Mutations of Major Histocompatibility Class-II Associated Molecules

Lauren Rigg, MD1, Neha Sanan, DO2, Devi Jhaveri, DO3, Haig Tcheurekdjian, MD3

1Internal Medicine Resident, University Hospitals Cleveland Medical Center / Case Western Reserve University

2Adult and Pediatric Allergy / Immunology Fellow, University Hospitals Cleveland Medical Center

3Allergy / Immunology, Allergy Immunology Associates

Introduction/Background: Major Histocompatibility Class II (MHC-II) molecules are transmembrane proteins that are essential to the development of the normal adaptive immune response. 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. Homozygous mutations in these genes lead to MHC-II Deficiency Syndrome and have been associated with early onset and severe respiratory and...

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© Springer Science+Business Media, LLC, part of Springer Nature 2019

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