- Acquired somatic mutations in PNH reveal long-term maintenance of adaptive NK cells independent from HSPC. [Journal Article]
- BloodBlood 2016 Nov 30
- Natural killer (NK) cells have long been considered short-lived effectors of innate immunity. However, recent animal models and human studies suggest that subsets of NK cells have adaptive features. ...
Natural killer (NK) cells have long been considered short-lived effectors of innate immunity. However, recent animal models and human studies suggest that subsets of NK cells have adaptive features. We investigate clonal relationships of various NK cell subsets, including the adaptive population, by taking advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progenitor cells (HSPC) from patients with paroxysmal nocturnal hemoglobinuria (PNH). The affected HSPCs and their progeny lack expression of glycosylphosphatidylinositol (GPI) anchors on their cell surfaces, allowing quantification of PIGA-mutant (GPI-negative) HSPC-derived peripheral blood cell populations. The fraction of GPI-negative cells within the CD56(dim) NK cells was markedly lower than that of neutrophils and the CD56(bright) NK cell compartments. This discrepancy was most prominent within the adaptive CD56(dim) NK cell population lacking PLZF expression. The functional properties of these adaptive NK cells were similar in PNH patients and healthy individuals. Our findings support the existence of a long-lived, adaptive NK cell population maintained independently from HSPC.
- Different clinical characteristics of paroxysmal nocturnal hemoglobinuria in pediatric and adult patients. [Journal Article]
- HHaematologica 2016 Nov 24
- Immune Hemolytic Anemia (Paroxysmal Cold Hemoglobinuria) Preceding Burkitt Lymphoma in a 12-Year-Old Child. [Journal Article]
- JPJ Pediatr Hematol Oncol 2016 Nov 22
- Autoimmune hemolytic anemia (AIHA) in childhood, including paroxysmal cold hemoglobinuria, is an uncommon, potentially life-threatening disorder. AIHA is a recognized complication of several varietie...
Autoimmune hemolytic anemia (AIHA) in childhood, including paroxysmal cold hemoglobinuria, is an uncommon, potentially life-threatening disorder. AIHA is a recognized complication of several varieties of lymphoproliferative disorders, including high-grade B-cell lymphoma, but it has not been associated with Burkitt lymphoma in people without an underlying immunodeficiency. When AIHA occurs in association with lymphoproliferative disorders, it may precede or accompany the diagnosis of malignant disease or herald relapse. We report a novel case of a previously healthy child diagnosed with paroxysmal cold hemoglobinuria 14 months preceding the development of Burkitt lymphoma.
- Eculizumab treatment improved renal hemosiderosis in a patient with paroxysmal nocturnal hemoglobinuria. [Letter]
- IJInt J Hematol 2016 Nov 21
- Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II. [Journal Article]
- AHAnn Hematol 2016 Nov 11
- Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific ...