Kerry Dobbs

Jan 10, 2025 | science.org | Rama K. Gurram |Cody Elkins |Marita Bosticardo |Kerry Dobbs

Editor’s summaryRecombination-activating gene 1 (RAG1) and RAG2 are required for V(D)J recombination, which directs mature B and T cell development and a fully functional adaptive immune system. Hypomorphic variants of the RAG genes in humans results in an array of immunodeficiencies, which all have distinct features for reasons not well understood. Bosticardo et al.

Jul 24, 2024 | nature.com | Yi-Hao Chan |zhiyong Liu |Paul Bastard |Oliver Harschnitz |Peng Zhang |Gabriele Ciceri | +14 more

AbstractMost cases of herpes simplex virus 1 (HSV-1) encephalitis (HSE) remain unexplained1,2. Here, we report on two unrelated people who had HSE as children and are homozygous for rare deleterious variants of TMEFF1, which encodes a cell membrane protein that is preferentially expressed by brain cortical neurons. TMEFF1 interacts with the cell-surface HSV-1 receptor NECTIN-1, impairing HSV-1 glycoprotein D- and NECTIN-1-mediated fusion of the virus and the cell membrane, blocking viral entry.

Apr 12, 2024 | nature.com | Hirotsugu Oda |Kalpana Manthiram |Pallavi Pimpale Chavan |Shuichiro Nakabo |Mariël Swart |Nisa Celik | +22 more

AbstractThe linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage disease. In mice, the loss of Sharpin leads to severe dermatitis due to excessive keratinocyte cell death.