Publications by authors named "P Angelus"
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells (αβDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor.
View Article and Find Full Text PDFCARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B- and T-cells in response to antigen. Germline gain-of-function (GOF) mutations in the gene cause a unique B cell lymphoproliferative disorder known as B cell Expansion with NF-κB and T cell Anergy (BENTA). In contrast, patients carrying loss-of-function (LOF), dominant negative (DN) mutations present with severe atopic disease.
View Article and Find Full Text PDFArticle Synopsis
- DOCK8 immunodeficiency syndrome (DIDS) is a serious genetic condition marked by heightened vulnerability to viral skin infections, skin cancers, and severe food allergies.
- The DOCK8 gene has repetitive elements that can lead to significant DNA deletions, with incomplete protein function causing varied symptoms and immune deficiencies, particularly affecting lymphocyte shape and function.
- While hematopoietic stem cell transplantation can effectively treat eczema and infection risks, it does not consistently resolve other complications like food allergies.
-cell xpansion with F-κB and -cell nergy (BENTA) disease is a B-cell-specific lymphoproliferative disorder caused by germline gain-of-function mutations in . These mutations force the CARD11 scaffold into an open conformation capable of stimulating constitutive NF-κB activation in lymphocytes, without requiring antigen receptor engagement. Many BENTA patients also suffer from recurrent infections, with 7 out of 16 patients exhibiting chronic, low-grade Epstein-Barr virus (EBV) viremia.
View Article and Find Full Text PDFBackground: Patient-health care practitioner (HCP) interaction via a Web-based diabetes management system may increase patient monitoring of their blood glucose (BG) levels.
Methods: A three-center, nonrandomized, prospective feasibility study of 109 Native Americans with poorly controlled type 1 diabetes mellitus and type 2 diabetes mellitus were recruited from Alabama, Idaho, and Arizona. The study intervention included the use of a Web-based diabetes management application (MyCareTeam) that allowed timely interaction between patients and HCPs.