Results 271 to 280 of about 2,726,696 (323)

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) catalyze the formation of aminoacyl‐tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in IARS1 (MIM# 600709), encoding cytoplasmic isoleucyl‐tRNA synthetase, have been associated with autosomal recessive growth retardation ...
Parith Wongkittichote, Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry, Anthony Antonellis, Marwan Shinawi   +7 more
wiley   +1 more source

Parvovirus B19 Rebound

Journal of Medical Virology, Volume 97, Issue 5, May 2025.
ABSTRACT Human parvovirus B19 (B19V) is responsible for a wide clinical spectrum ranging from asymptomatic infection, through mild disease, up to life‐threatening one. Outbreaks are registered every 3–4 years, and a recent international alert for a new outbreak has been released.
Stefania Ranno, Cristina Russo, Luna Colagrossi, Valeria Fox, Velia Chiara Di Maio, Giulia Linardos, Leonarda Gentile, Rosaria Marotta, Sebastian Cristaldi, Andrea Campana, Mara Pisani, Leonardo Caforio, Alberto Villani, Carlo Federico Perno, Luana Coltella   +14 more
wiley   +1 more source

Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI). [PDF]

J Clin Immunol
Fox TA, Massey V, Lever C, Pearce R, Laurence A, Grace S, Oliviero F, Workman S, Symes A, Lowe DM, Fiaccadori V, Hough R, Tadros S, Burns SO, Seidel MG, Carpenter B, Morris EC.   +16 more
europepmc   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Human inborn errors of immunity underlying <i>Talaromyces marneffei</i> infections: a multicenter, retrospective cohort study. [PDF]

Front Immunol
Fan H, Yang Z, Wu Y, Lu X, Li T, Lu X, Lu G, He L, Lu G, Huang L.   +9 more
europepmc   +1 more source

European Consensus on Malabsorption—UEG & SIGE, LGA, SPG, SRGH, CGS, ESPCG, EAGEN, ESPEN, and ESPGHAN. Part 1: Definitions, Clinical Phenotypes, and Diagnostic Testing for Malabsorption

United European Gastroenterology Journal, Volume 13, Issue 4, Page 599-613, May 2025.
ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti, Heinz Florian Hammer, Ilja Tacheci, Rosa Burgos, Stephane Schneider, Anastasiou Foteini, Aleksejs Derovs, Jutta Keller, Ilse Broekaert, Marianna Arvanitakis, Dan Lucian Dumitrascu, Oscar Segarra‐Cantón, Željko Krznarić, Juris Pokrotnieks, Gonçalo Nunes, Johann Hammer, Loris Pironi, Marc Sonyi, Cristina Maria Sabo, Juan Mendive, Adrien Nicolau, Jernej Dolinsek, Denisa Kyselova, Lucrezia Laterza, Antonio Gasbarrini, Teodora Surdea‐Blaga, Jorge Fonseca, Christos Lionis, Gino Roberto Corazza, Antonio Di Sabatino   +29 more
wiley   +1 more source

Improving access to gene therapy for rare diseases

Disease Models & Mechanisms
Thomas A. Fox, Claire Booth
doaj   +1 more source

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations. [PDF]

J Clin Immunol
Maimaris J, Payne J, Roa-Bautista A, Breuer J, Storey N, Morfopoulou S, Bamford A, D'Arco F, Gilmour K, Aquilina K, Hassell J, Hacohen Y, Silva AHD, Merve A, Jacques TS, Rao K, Chiesa R, Amrolia P, Silva J, Braggins H, Xu-Bayford J, Goldblatt D, Worth A, Booth C, Ip W, Qasim W, Kusters M, Kaliakatsos M, Brown JR, Elfeky R.   +29 more
europepmc   +1 more source

Cutaneous manifestations of WHIM syndrome

The Journal of Dermatology, Volume 52, Issue 5, Page 917-921, May 2025.
Abstract Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) syndrome is a rare immunodeficiency caused by gain‐of‐function mutations in the chemokine receptor CXCR4. While human papillomavirus (HPV) skin infection (warts) is the dermatological hallmark of the disease, individuals with WHIM have high rates of other skin manifestations ...
Rutha Adhanom, Caleb Kim, Jennifer Strong, Sophia Martinez, Heidi H. Kong, Isaac Brownell, Philip M. Murphy, David H. McDermott, Leslie Castelo‐Soccio   +8 more
wiley   +1 more source

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disorders

Serra I, de Koning M, van der Spek PJ, Dalm VA, Badura A.   +4 more
europepmc   +1 more source