The autoimmune lymphoproliferative syndrome (ALPS) is characterized by early-onset lymphadenopathy, splenomegaly, immune cytopenias, and an increased risk for B cell lymphomas. Most ALPS patients harbor mutations in the FAS gene, which regulates lymphocyte apoptosis. These are commonly missense mutations affecting the intracellular region of the protein and have a dominant-negative effect on the signaling pathway.
View Article and Find Full Text PDFSomatic gain-of-function mutations in members of the RAS subfamily of small guanosine triphosphatases are found in > 30% of all human cancers. We recently described a syndrome of chronic nonmalignant lymphadenopathy, splenomegaly, and autoimmunity associated with a mutation in NRAS affecting hematopoietic cells, and initially we classified the disease as a variant of the autoimmune lymphoproliferative syndrome. Here, we demonstrate that somatic mutations in the related KRAS gene can also be associated with a nonmalignant syndrome of autoimmunity and breakdown of leukocyte homeostasis.
View Article and Find Full Text PDFHIV infection is spreading among the poor, women, and migrant communities in the interior of Northeast Brazil. The research focused on different configurations, beliefs, representations, and forms of social organization of behavior thought to be associated with the population's capacity to efficiently follow AIDS prevention measures. Participants located in neighborhoods known for having large migrant populations were identified by Family Health Program Workers in Fortaleza and Teresina.
View Article and Find Full Text PDFObjective: To evaluate the influence of sociodemographic, clinical, and epidemiological factors in AIDS patients survival in a reference hospital.
Methods: A sample of 502 adult AIDS patients out of 1,494 AIDS cases registered in a hospital in Fortaleza, Brazil, was investigated between 1986 and 1998. Sixteen cases were excluded due to death at the moment of the AIDS diagnosis and 486 were analyzed in the study.