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Monoallelic expression can govern penetrance of inborn errors of immunity.
Nature
January 2025
Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Article Synopsis
- Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
- This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
- The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
Defining cause of death in a contemporary cohort with ANCA-associated vasculitis (AAV): A comparison of electronic health record and death certificate data.
Semin Arthritis Rheum
February 2025
Department of Medicine, Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, 55 Fruit St, Yawkey 4B, Boston, MA, USA.
Objectives: Patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) face excess mortality compared with the general population. Mortality in clinical epidemiology research is often examined using death certificate diagnosis codes; however, the sensitivity of such codes in AAV is unknown.
Methods: We performed a retrospective cohort study using the Mass General Brigham AAV Cohort, including patients with AAV who died between 2002 and 2019.
Clinical Applicability of 2-Field High-Resolution and Extended HLA-Allele Typing in Deceased Donor Kidney Allocation.
HLA
December 2024
Department of Renal Medicine and Transplantation, Sir Charles Gairdner Hospital, Perth, Australia.
HLA-compatibility remains an important triage test for deceased donor kidney allocation. Low-intermediate resolution donor HLA-typing is typically available at allocation, but its accuracy in assigning pre-transplant donor-specific anti-HLA antibody (DSA) and HLA mismatches compared to 2-field high-resolution typing is poorly characterised. Consecutive deceased donor/recipient pairs from a single centre between 2016 and 2020 were included.
View Article and Find Full Text PDFClinical features of anti-SAE1 antibody-positive myositis and interstitial lung disease: a multicenter, retrospective study in Taiwan.
Front Immunol
November 2024
Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital, and Chang Gung University, Taoyuan, Taiwan.
Article Synopsis
- The study investigates the role of anti-SAE1 antibodies in patients with idiopathic inflammatory myopathies (IIMs) and how these antibodies relate to interstitial lung disease (ILD), particularly among Taiwanese individuals.
- A cohort of 6,496 patients was analyzed, with 70 found to be SAE1 positive; clinical characteristics, diagnoses, and the presence of ILD were evaluated over time.
- Results showed that strong SAE1 positivity correlated more strongly with IIM and ILD compared to weak positivity, indicating its potential clinical utility in diagnosis.
Pregnancy induced displacement of preexisting microchimeric cells in the absence of maternal B and T cells.
Front Immunol
November 2024
Division of Infectious Diseases, Center for Inflammation and Tolerance, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Bidirectional exchange of cells between mother and fetus occurs during pregnancy, and persistence of these genetically foreign cells establishes long-term microchimerism in both individuals after parturition. Since women can have multiple pregnancies, and all mothers were once daughters themselves, the microchimeric milieu in each woman could theoretically contain cells from a variety of origins, including from their own mothers as well as their babies from each pregnancy. Interestingly and in sharp contrast to this prediction, we recently showed preexisting populations of microchimeric cells are lost following pregnancy and associated with seeding of new fetal microchimeric cells.
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