98%
921
2 minutes
20
Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe coronavirus disease 2019 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly affect treatment outcomes, either through an earlier and more precise diagnosis or through implementation of novel, personalized treatment. The field is growing rapidly, so awareness, communication, and collaboration are key to improving treatment outcomes.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jaci.2024.12.1075 | DOI Listing |
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1-CDG, a rare X-linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1-CDG include immunodeficiency, liver dysfunction, and neurological manifestations.
View Article and Find Full Text PDFJGH Open
September 2025
Department of Genomic Medicine, Division of Biochemistry, Molecular Biology, and Nutrition University Hospital of Nancy Nancy France.
Introduction: Cirrhosis progresses from compensated to decompensated phases, often marked by portal hypertension and complications like ascites, variceal hemorrhage, and hepatic encephalopathy. The ammonia-to-urea (A-to-U) ratio, reflecting urea cycle efficiency, may offer superior diagnostic performance compared to plasma ammonia levels alone. This study compared the diagnostic accuracy of the A-to-U ratio and plasma ammonia levels for identifying portal hypertension.
View Article and Find Full Text PDFJ Hum Immun
November 2025
Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH, Bethesda, MD, USA.
Inborn errors of immunity (IEI) presenting with immunodeficiency and autoimmunity can illuminate pathways essential for immunocompetence and self-tolerance. We recently characterized a new IEI named MAGIS ("idline malformations of the brain, nterior pituitary gland dysfunction, rowth retardation, mmunodysregulation/immunodeficiency, and keletal defects") caused by heterozygous germline activating mutations in (encoding the heterotrimeric G-protein, G). This disorder demonstrates the central role of G regulation of chemotaxis in humans and a novel pathway by which G-proteins regulate T-cell activation.
View Article and Find Full Text PDFNat Rev Rheumatol
September 2025
Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Firenze, Italy.
Nat Rev Rheumatol
September 2025
Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.