Jonathan Bond

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X-linked neutropenia (XLN, OMIM #300299) is a rare form of severe congenital neutropenia. It was originally described in a three-generation family with five affected members that had an L270P mutation in the GTP-ase binding domain (GBD) of the Wiskott-Aldrich syndrome protein (WASP) [Devriendt et al (2001) Nature Genetics, Vol. 27, 313-317]. Here, we report(More)
PURPOSE The Group for Research in Adult Acute Lymphoblastic Leukemia (GRAALL) recently reported a significantly better outcome in T-cell acute lymphoblastic leukemia (T-ALL) harboring NOTCH1 and/or FBXW7 (N/F) mutations compared with unmutated T-ALL. Despite this, one third of patients with N/F-mutated T-ALL experienced relapse. PATIENTS AND METHODS In a(More)
References 1. Mohty M, Labopin M, Volin L, et al. Reduced-intensity versus conventional my-eloablative conditioning allogeneic stem cell transplantation for patients with acute lymphoblastic leukemia: a retrospective study from the European Group for Blood and Marrow Transplantation. et al. Reduced-intensity conditioning allogeneic stem cell transplantation(More)
Enzymatic activity, biosynthesis, and maturation of lactasephlorizin hydrolase (LPH) were investigated in adult volunteers with suspected lactose intolerance. Mean LPH activity in jejunal biopsy homogenates of these individuals was 31% compared to LPH-persistent individuals, and was accompanied by a reduced level of LPH-protein. Mean sucrase activity in(More)
The success of modern therapy for childhood acute lymphoblastic leukemia (ALL) has led to an increased focus on avoidance of treatment-related morbidity in long-term survivors. It is clear that the prognosis for older patients in particular has been improved by protocols based on effective asparagine depletion and intensive exposure to corticosteroids,(More)
Biological subclasses of T-cell acute lymphoblastic leukemia (T-ALL) can be defined by recurrent gene expression patterns, which typically segregate with specific chromosomal anomalies. The HOXA subgroup is characterized by deregulated homeobox A (HOXA) gene expression and is associated with translocations involving the mixed lineage leukemia (MLL) and/or(More)
V(D)J recombination of TCR loci is regulated by chromatin accessibility to RAG1/2 proteins, rendering RAG1/2 targeting a potentially important regulator of lymphoid differentiation. We show that within the human TCR-α/δ locus, Dδ2-Dδ3 rearrangements occur at a very immature thymic, CD34(+)/CD1a(-)/CD7(+dim) stage, before Dδ2(Dδ3)-Jδ1 rearrangements. These(More)
UNLABELLED Gene expression studies have consistently identified a HOXA-overexpressing cluster of T-cell acute lymphoblastic leukemias, but it is unclear whether these constitute a homogeneous clinical entity, and the biological consequences of HOXA overexpression have not been systematically examined. We characterized the biology and outcome of 55(More)