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Functional, molecular and histopathological approach of autoimmunity and lymphoproliferative syndrome as a manifestation of primary immunodeficiency

Grant number: 12/06194-9
Support Opportunities:Regular Research Grants
Duration: January 01, 2013 - December 31, 2015
Field of knowledge:Health Sciences - Medicine - Maternal and Child Health
Principal Investigator:Maria Marluce dos Santos Vilela
Grantee:Maria Marluce dos Santos Vilela
Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil


Apoptosis or programmed cell death is the mechanism that controls the number and removal of senescent, damaged or unnecessary cells, without causing inflammation. The process is very important in regulating the immune response. The first human disease with etiology attributed to primary defect in apoptosis was Autoimmune Lymphoproliferative Syndrome (ALPS), mainly caused by heterozygous mutations in the TNFRSF6 gene, coding for Fas. The disease is typically characterized by infiltration of double-negative T cells (cells with the TCR ± /² receptor but negative for CD4 CD8) in the lymphoid tissues. Autoimmunity also appears as a frequent manifestation in patients with ALPS, affecting mainly platelets, erythrocytes and leukocytes, and organs such as kidneys, liver, joints, eyes, neurological system, intestine, lung and blood vessels. Some studies suggest that these events are associated with increased production of interleukin (IL) -10 by double-negative T cells. FasL soluble and vitamin B12 concentrations are also elevated in these patients. Other Primary Immunodeficiencies can also manifest with lymphoproliferation and / or autoimmunity, showing an overlapping phenotype with ALPS. The early diagnosis of ALPS has a great medical importance. In many cases, knowledge of the gene defect prevents misdiagnosis, especially confusion with lymphoid malignancies, and the administration of unnecessary and potentially toxic treatments. In this work, we intend to study the regulation of immune response and evaluation of the lymph nodes histology in patients with lymphoproliferative syndrome and autoimmunity. The genetic approach associated with functional and histopathological approaches may reveal new markers and expand the phenotypes of these manifestations in primary immunodeficiencies. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MAREGA, LIA FURLANETO; TEOCCHI, MARCELO ANANIAS; DOS SANTOS VILELA, MARIA MARLUCE. Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). CLINICAL AND EXPERIMENTAL IMMUNOLOGY, v. 185, n. 2, p. 148-153, . (12/06194-9)

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