Luigi D. Notarangelo

Nov 20, 2024 | nature.com | Nadav Yayon |Lena Boehme |Brianna T. Wachter |Oren Amsalem |Alexander Predeus |Catherine Tudor | +13 more

AbstractT cells develop from circulating precursor cells, which enter the thymus and migrate through specialized subcompartments that support their maturation and selection1. In humans, this process starts in early fetal development and is highly active until thymic involution in adolescence.

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.

May 22, 2024 | sciencedirect.com | Ottavia Delmonte |Luigi D. Notarangelo

Section snippetsStudy populationPatients with CRSsNP and patients with CRSwNP who had ESS at Northwestern Memorial Hospital and consented to collection of surgical samples in our research repository between 2017 and 2021 were prospectively invited to participate in a research evaluation 6 to 12 months after ESS (Fig 1). The patients provided written informed consent to access nasal secretions and clinical information collected before and after ESS.

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.

Jan 16, 2024 | onlinelibrary.wiley.com | Sarah S. Dinges |Luigi D. Notarangelo |Ottavia Delmonte |Kayla Amini

CONFLICT OF INTEREST STATEMENT The authors declare no competing interests. REFERENCES 1. The function of the thymus and its impact on modern medicine. Science. 2020; 369(6503):eaba2429. doi:10.1126/science.aba2429 2. ‘Nude’, a new hairless gene with pleiotropic effects in the mouse. Genet Res. 1966; 8(3): 295-309. doi:10.1017/s0016672300010168 3. Absence of thymus in a mouse mutant. Nature. 1968; 217(5126): 370-371. doi:10.1038/217370a0 4, . Congenital absence of the thymus.