Genetic Immune Diseases

Overview

Dr. Butte's clinic focuses on children and adults with severe infections, autoimmunity, and inflammation due to monogenic causes. We are working very hard to improve diagnosis of rare immune diseases (primary immunodeficiency diseases). By elucidating the underlying cause of rare immune diseases, we learn more about the human immune system. Furthermore, we improve our ability to apply rational treatments.

Research 

PI3K 

Featured publications:

• Thauland TJ, Pellerin L, Ohgami RS, Bacchetta R, Butte MJ. Mechanism for increased follicular helper T cell development in activated PI3K delta syndrome. Frontiers in Immunology. 2019 Apr 12;10:753. PMID 31031754.

SCID and Omenn Syndrome 

Featured publications:

• Matthews AGW, Briggs CE, Yamanaka K, Small TN, Mooster JL, Bonilla FA, Oettinger MA, Butte MJ. Compound Heterozygous Mutation of Rag1 leading to Omenn Syndrome. PLoS ONE. 10(4): e0121489 (2015). PMID: 25849362. 

Collaborative studies on a variety of immune deficiencies

Featured publications:

• Mathieu A-L, … Butte MJ, … Belot A. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity. J. Allergy and Clinical Immunology. 2015 Jun;135(6):1578-1588.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. PMID: 25842288