Publications by authors named "F T Rapaport"

Article Synopsis
  • Two unrelated adults were found to have genetic mutations causing a deficiency in a protein called RelB, leading to impaired immune responses.
  • This deficiency affects their ability to produce certain immune cells and antibodies, resulting in low levels of important T and B cells and impaired immune function.
  • As a result, the patients have an increased risk of infections due to their weakened immune system, and they produce harmful autoantibodies against type I interferons even after receiving stem cell transplants.
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Severe defects in human IFNγ immunity predispose individuals to both Bacillus Calmette-Guérin disease and tuberculosis, whereas milder defects predispose only to tuberculosis. Here we report two adults with recurrent pulmonary tuberculosis who are homozygous for a private loss-of-function TNF variant. Neither has any other clinical phenotype and both mount normal clinical and biological inflammatory responses.

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Article Synopsis
  • CD4+ T cells are crucial for the immune system, but their exact function is not fully understood, particularly the role of the CD4 protein itself.
  • Researchers studied seven patients with a rare genetic condition causing CD4 deficiency, leading to various infections, and found that these individuals lacked CD4+ T cells but had alternative T cell populations that could still mount immune responses.
  • While the patients showed compensatory immune responses against many pathogens, CD4 remains essential for protection against specific infections like human papillomavirus and Whipple's disease.
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Most cell-cell interactions and crosstalks are mediated by ligand-receptor interactions. The advent of single-cell RNA-sequencing (scRNA-seq) techniques has enabled characterizing tissue heterogeneity at single-cell level. In the past few years, several methods have been developed to study ligand-receptor interactions at cell type level using scRNA-seq data.

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