Immunology | Overview
IgG Fc glycosylation as an axis of humoral immunity in childhood
Authors: Cheng HD, Tirosh I, de Haan N, Stöckmann H, Adamczyk B, McManus CA, O'Flaherty R, Greville G, Saldova R, Bonilla FA, Notarangelo LD, Driessen GJ, Holm IA, Rudd PM, Wuhrer M, Ackerman ME, Nigrovic PA
Summary: The authors used biosamples from 267 patients to study if IgG Fc glycans, a specific part of the antibodies we use to fight infections, varied with age and if they were associated with respiratory infections. They found that IgG Rc glycosylation could impact our immune response and should be included in laboratory workups of disease.
Publication Information: Journal of Allergy and Clinical Immunology, February 2020
The immunologic features of patients with early-onset and polyautoimmunity
Authors: Hoyt KJ, Chatila TA, Notarangelo LD, Hazen MM, Janssen E, Henderson LA
Summary: This manuscript reports on the immunologic underpinning of early-onset/polyautoimmunity in a unique cohort of patients seen in the Multiple Autoimmune/Immunodeficiency Clinic at Boston Children’s. The high rate of genetic diagnoses and treatment interventions in this population highlights the value of collaboration between rheumatologists and immunologists in the care of these complex patients.
Publication Information: Clinical Immunology, February 2020
Primary immunodeficiencies caused by mutations in actin regulatory proteins
Authors: Janssen E, Geha RS
Summary: In this review article, Dr. Janssen and Dr. Geha discuss the effects of monogenic defects in actin proteins and how research has given insight to their role in cell biology.
Publication Information: Immunological Reviews, January 2019
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