Publications by authors named "J Cappello"

The fabrication of microgels, particularly those ranging from tens to hundreds of micrometers in size, represents a thriving area of research, particularly for biologists seeking controlled and isotropic media for cell encapsulation. In this article, we present a novel and robust method for producing structurally homogeneous alginate beads with a reduced environmental footprint, employing a co-flow focusing microfluidic device. These beads can be easily recovered in an oil-free aqueous medium, making the fabrication method highly suitable for diverse applications.

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Whole-exome sequencing of two unrelated kindreds with systemic autoimmune disease featuring antinuclear antibodies with IgG4 elevation uncovered an identical ultrarare heterozygous TNIP1 variant segregating with disease. Mice with the orthologous Q346P variant developed antinuclear autoantibodies, salivary gland inflammation, elevated IgG2c, spontaneous germinal centers and expansion of age-associated B cells, plasma cells and follicular and extrafollicular helper T cells. B cell phenotypes were cell-autonomous and rescued by ablation of Toll-like receptor 7 (TLR7) or MyD88.

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Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3-a negative regulator of cytokine and growth factor receptor signaling-harbors rare coding variants in over 5% of SLE patients.

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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.*
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Myxomas make up roughly half of all primary cardiac tumors, with three-quarters originating in the left atrial cavity and one-quarter in the right. These tumors can occur sporadically or in families. Atrial myxomas are classified as severe based on factors such as their size, the patient's age and gender, and the tumor's proclivity to embolize or occlude coronary vessels.

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