Results 81 to 90 of about 12,870 (263)

Systematics, diagnosis and treatment of wound infections in chronic wounds: A position paper from WundDACH

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 5, Page 565-574, May 2025.
Summary Wound infections are still an interdisciplinary and interprofessional challenge, because of numerous complications, particularly in people with chronic wounds. There are many different concepts and approaches in this field today. Therefore, WundDACH, the umbrella organization of the German‐speaking wound healing societies, wrote a position ...
Joachim Dissemond, Julian‐Dario Rembe, Bernd Assenheimer, Marjam Barysch‐Bonderer, Veronika Gerber, Jan Kottner, Peter Kurz, Martin Motzkus, Eva‐Maria Panfil, Sebastian Probst, Robert Strohal, Jürg Traber, Andreas Schwarzkopf   +12 more
wiley   +1 more source

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

Pediatric Allergy and Immunology, Volume 36, Issue 5, May 2025.
Abstract Background Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T‐cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B‐cell development disorders, such as
Markéta Bloomfield, Eva Hlaváčková, Helena Schneiderová, Marek Turnovec, Lukáš Tichý, Zbyněk Čech, Petr Chrastina, Lenka Dvořáková, Karolína Pešková, Renata Formánková, Petr Říha, Marcela Vlková, Petr Bejdák, Magdaléna Havlišová, Eva Froňková, Tomáš Kalina, Viktor Bíly, Dita Říčná, Hana Grombiříková, Petr Sedláček, Jiří Litzman, Tomáš Freiberger, Anna Šedivá, Adam Klocperk   +23 more
wiley   +1 more source

Monogenic Common Variable Immunodeficiency (Mo‐CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort

European Journal of Immunology, Volume 55, Issue 3, March 2025.
A mutation was identified in 47% of the CVID‐enrolled patients and, in the majority, it was not related to CVID according to the IUIS classification, leading to a diagnostic metamorphosis of this pathological entity. The Mo‐CVID Score could help clinicians prioritize genetic analysis in pediatric CVID patients. The image was created with BioRender.com.
Federica Barbati, Lorenzo Lodi, Silvia Boscia, Martina Cortimiglia, Elisa Calistri, Francesca Quaranta, Laura Maggi, Alessio Mazzoni, Boaz Palterer, Francesco Annunziato, Chiara Azzari, Silvia Ricci   +11 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing ...
Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk   +14 more
wiley   +1 more source

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan

Pediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Purpose Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer.
Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu‐Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui‐Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh, Amit Rawat, Surjit Singh, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama   +17 more
wiley   +1 more source

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency

Human Mutation, Volume 2025, Issue 1, 2025.
Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID is genetically heterogeneous and occurs in sporadic or familial forms with different inheritance patterns. Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in ...
Tayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, Mansoor Salehi, Fatemeh Ranjbarnejad, Nasimeh Vatandoost, Mohammadreza Sharifi, Aziz ur Rehman Aziz   +7 more
wiley   +1 more source

Protective role of antibodies in enteric virus infections: Lessons from primary and secondary immune deficiencies

Immunological Reviews, Volume 328, Issue 1, Page 243-264, November 2024.
Summary Enteric viruses are the main cause of acute gastroenteritis worldwide with a significant morbidity and mortality, especially among children and aged adults. Some enteric viruses also cause disseminated infections and severe neurological manifestations such as poliomyelitis.
Quentin Riller, Muriel Schmutz, Jacques Fourgeaud, Alain Fischer, Bénédicte Neven   +4 more
wiley   +1 more source

Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood

Pediatric Allergy and Immunology, Volume 35, Issue 10, October 2024.
Abstract Background In this study, we aimed to report long‐term follow‐up of our pediatric and adult patients with DCLRE1C (DNA cross‐link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID). Methods Eighteen patients (13 children and five adults), aged between 6 and 29 years were included.
Esra Hazar, Mehmet Ali Karaselek, Hasan Kapakli, Oznur Dogar, Serkan Kuccukturk, Vedat Uygun, Hasibe Artac, Sıdıka Fındık, Ali Sahin, Sevket Arslan, Sukru Guner, Ismail Reisli, Sevgi Keles   +12 more
wiley   +1 more source

FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency

Current Issues in Molecular Biology
Folliculin-interacting protein 1 (FNIP1) is a key regulator of cellular metabolism and immune homeostasis, integrating nutrient signaling with proteostasis.
Samuele Roncareggi, Brian M. Iritani, Francesco Saettini   +2 more
doaj   +1 more source