Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

Authors: Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA

Summary: Dr. Lee and his collaborators studied a disease called deficiency of adenosine deaminase 2, which causes inflammation, rashes, and immunodeficiency. By studying biosamples from patients, the authors discovered why some genetic mutations in the ADA2 gene cause disease.

Publication Information: Journal of Allergy and Clinical Immunology, June 2018

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene

Authors: Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB

Summary: Dr. Lo worked with several immunologist investigators to identify a new genetic cause of autoimmune thyroid disease.

Publication Information: Journal of Autoimmunity, January 2018

DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs

Authors: Janssen E, Kumari S, Tohme M, Ullas S, Barrera V, Tas JM, Castillo-Rama M, Bronson RT, Usmani SM, Irvine DJ, Mempel TR, Geha RS

Summary: Dr. Janssen and several members of the Division of Immunology studied patients and mice with mutations in a gene called DOCK8. Through this work, they better understand how the mutations in the DOCK8 gene lead to immune problems.

Publication Information: Journal of Clinical Investigation, October 2017

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

Authors: Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J

Summary: Dr. Dedeoglu worked with investigators in the Division of Immunology to identify a novel genetic mutation in the RELA gene that causes recurrent mouth ulcers. Patients with this genetic mutation respond well to TNF inhibitors. Through this study, we have a better understanding of what causes mouth sores and the important role of the RELA gene and TNF in that process.

Publication Information: Journal of Experimental Medicine, July 2017

The metabolic regulator mTORC1 controls terminal myeloid differentiation

Authors: Lee PY, Sykes DB, Ameri S, Kalaitzidis D, Charles JF, Nelson-Maney N, Wei K, Cunin P, Morris A, Cardona AE, Root DE, Scadden DT, Nigrovic PA

Summary: Dr. Lee studied how monocytes, a type of immune cell, develop. He discovered a key molecule that controls the development of monocytes called mTORC1.

Publication Information: Science Immunology, May 2017