Publications by authors named "I Caramalho"

Article Synopsis
  • This study investigates the link between whole exome sequencing (WES) data and clinical features in children diagnosed with type 1 diabetes before age 5, analyzing 99 unrelated cases.
  • Of the participants, 8.1% had potentially harmful rare variants in MODY genes, which were associated with specific genetic risk factors and different clinical markers compared to those without these variants.
  • The findings suggest that WES may help identify distinct subtypes (endotypes) of type 1 diabetes and pave the way for tailored treatments in young patients.
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Introduction: Early-onset Type 1 diabetes (EOT1D) is considered a disease subtype with distinctive immunological and clinical features. While both Human Leukocyte Antigen (HLA) and non-HLA variants contribute to age at T1D diagnosis, detailed analyses of EOT1D-specific genetic determinants are still lacking. This study scrutinized the involvement of the HLA class II locus in EOT1D genetic control.

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Cellular adoptive transfer and mixed bone marrow chimera are cornerstone experimental tools for immuno-biology. Here we describe protocols for adoptive transfer and bone marrow chimera to address the effect of a specific mutation on T regulatory cell (Treg) function and differentiation, respectively. Treg function can be quantitatively measured by analyzing the expansion of conventional CD4 T cells and their differentiation into helper cells.

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Background: Umbilical cord blood (UCB) is a clinically relevant alternative source of hematopoietic stem/progenitor cells (HSPC). To overcome the low cell number per UCB unit, ex vivo expansion of UCB HSPC in co-culture with mesenchymal stromal cells (MSC) has been established. Bone marrow (BM)-derived MSC have been the standard choice, but the use of MSC from alternative sources, less invasive and discardable, could ease clinical translation of an expanded CD34 cell product.

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