RESUMO
Several conventions have been established in order to define and characterize Mixed Phenotype Acute Leukemia (MPAL). However, megakaryocytic markers have not been included in the definition of MPAL neither in the European Group for the Immunological Characterization of Leukemias (EGIL) proposal nor in any of the WHO Classification of Tumors issues. We report four pediatric acute leukemia (AL) cases (prevalence: 0.18%) with megakaryoblasts co-expressing the T-specific antigen CD3 (cytoplasmic), together with a very homogeneous antigen profile of immature cells and other lymphoid traits. In one case, the presence of epsilon CD3 mRNA was confirmed as well on sorted CD34+ blasts. All four cases were infants, and two of them disclosed trisomy 21 in the blast population (not constitutional) without being children with Down Syndrome. They were homogeneously treated with AML schemes, achieving all four CR. However, 3 patients relapsed early. Only one patient is alive and remain disease-free, with a long follow-up. Even though cyCD3 was the only T cell marker expressed, its specificity entails the consideration of these cases as a new subtype of MPAL Megakaryoblastic/T, keeping this in mind when designing diagnostic panels. Detection and report of these cases are necessary so as to further characterize them in order to define the most appropriate treatment.
Assuntos
Biomarcadores Tumorais/análise , Complexo CD3/biossíntese , Leucemia Megacarioblástica Aguda/imunologia , Complexo CD3/análise , Linhagem da Célula/imunologia , Citoplasma/metabolismo , Feminino , Humanos , Imunofenotipagem , Lactente , Leucemia Megacarioblástica Aguda/classificação , Leucemia Megacarioblástica Aguda/patologia , MasculinoRESUMO
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe hypogammaglobulinemia but limited clinical evidence of an infectious diathesis. A shortened immunoglobulin half-life was determined to be the mechanism underlying the hypogammaglobulinemia. Impaired viral replication and cellular entry may explain a decreased susceptibility to infections.
Assuntos
Agamaglobulinemia/genética , Defeitos Congênitos da Glicosilação/imunologia , Resistência à Doença/genética , Viroses/imunologia , alfa-Glucosidases/genética , Agamaglobulinemia/imunologia , Anticorpos Antivirais/sangue , Criança , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/metabolismo , Feminino , Glicosilação , Humanos , Imunoglobulinas/metabolismo , MasculinoRESUMO
Hate crimes are motivated by perpetrators' prejudice toward targets' group. To examine individuals' attitudes toward hate crime perpetrators and targets, participants responded to vignettes of court cases in which the victim's group membership was varied. Results showed that participants recommended more severe sentences for perpetrators when the targets of their crimes were not White males or White females and reported those crimes as more closely fitting the definition of "hate crime." These results show that participants consider penalty enhancements appropriate for hate crimes and that they do not consider crimes against women to be hate crimes, consistent with present hate crime legislation. These results have implications for the utility and support of hate crime legislation but may showcase the resistance to expanding the legislation to protect individuals of other groups, especially women.
