A novel DKC1 mutation, severe combined immunodeficiency (T+B–NK– SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome [PDF]
Fausto Cossu +5 more
openalex +1 more source
Abstract Postpartum hemorrhage (PPH) remains the leading cause of maternal mortality worldwide, particularly in resource‐constrained and remote settings. The cornerstone of reducing PPH‐related morbidity and mortality lies in its early recognition, timely treatment, and adherence to evidence‐based protocols, all of which are heavily dependent on an ...
Ferdousi Begum +11 more
wiley +1 more source
Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths. [PDF]
Zhang L +10 more
europepmc +1 more source
A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report. [PDF]
Yan L +7 more
europepmc +1 more source
Saliva MicroAge is a machine learning‐based model designed to estimate biological age and assess health status using globally sourced salivary microbiome data. Trained on 4532 healthy samples, the model achieves high accuracy in predicting chronological age and captures health‐related deviations (MicroAgeGap) in various diseases.
Tiansong Xu +13 more
wiley +1 more source
The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia. [PDF]
Aldhaheri A +15 more
europepmc +1 more source
Generation of inactivated IL2RG and RAG1 monkeys with severe combined immunodeficiency using base editing. [PDF]
Zheng X +17 more
europepmc +1 more source
New insights into applications of base editor in hereditary disorders
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
BCG vaccination in children with severe combined immunodeficiency in a tertiary center: evaluation of complications and risks. [PDF]
Botaro MH +4 more
europepmc +1 more source

