Publications by authors named "C de Lucas-Collantes"
Article Synopsis
- Autosomal dominant loss-of-function variants in CTLA-4 cause immune system issues like autoimmunity and immunodeficiency, known as IDAIL, which show variability in symptoms due to genetic modifiers.* -
- The study identifies a patient with a pathogenic CTLA-4 variant and a rare DECTIN-1 variant that affects DECTIN-1's function, leading to reduced immune regulation.* -
- DECTIN-1 is shown to enhance the differentiation of regulatory T cells and plays a critical role as a modifier that influences the severity of immune defects caused by CTLA-4 haploinsufficiency.*
Hypercapnia in hospitalized children and adolescents with anorexia nervosa as a predictive marker for readmission: a prospective study.
Eat Weight Disord
November 2023
Purpose: To determine whether hypercapnia is associated with risk of hospital readmission related to anorexia nervosa (AN) in children and adolescents.
Methods: We performed a prospective study of patients ≤ 18 years old admitted due to AN decompensation from November 2018 to October 2019. Both subtypes of AN, restricting subtype (AN-R) and binge-eating/purging subtype (AN-BP), were included.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder that causes phosphate wasting in the kidneys and is linked to increased levels of the hormone FGF23; its rarity can lead to delayed diagnosis, worsening patient outcomes.
- The International XLH Registry was launched in 2017 to gather data on XLH patients of all ages, with an interim analysis reporting on 579 participants as of March 2021, highlighting a longer diagnosis time for older adults compared to children.
- Data collected included family histories and genetic testing, revealing that a significant proportion of patients had biological relatives also affected by XLH, while most had a confirmed genetic mutation related to the disorder.
Introduction: Activation of the focal adhesion kinase (FAK) in podocytes is involved in the pathogenesis of minimal change disease (MCD), but the pathway leading to its activation in this disease is unknown. Here, we tested whether podocyte β1 integrin is the upstream modulator of FAK activation and podocyte injury in experimental models of MCD-like injury.
Methods: We used lipopolysaccharide (LPS) and MCD sera to induce MCD-like changes in vivo and in cultured human podocytes, respectively.