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Primary immunodeficiences in high risk pediatric patients: relationships between clinical manifestations and genetic alterations

Abstract

The aim of this project is to improve the investigation in Primary Immunodeficiences (PID) in our country, in order to reach a level comparable to the best international centers specialized in this kind of illnesses. The project is an outcome of the gathering of clinic and basic immunologists, geneticists and molecular biologists from three different public institutions (Universidade de S. Paulo -USP, Universidade Federal de São Paulo -UNIFESP e Universidade de Campinas -UNICAMP) and from the Albert Einstein Jewish Hospital. The specific targets of this project are: (a) implementation of the capacity of PID identification, searching cases in the risk pediatric groups (patients with recurrent and severe infections, auto-immune rheumatic diseases, severe allergic manifestations); (b) elucidation of the cellular and molecular bases of some PID, giving priority to antibody synthesis deficiency with normal serum immunoglobulin, and to chronic granulomatous disease of infancy; (c) search of prognosis markers for persistent hypogamaglobulinemias in infants and young children; (d) evaluation of immunocompetence in patients with well defined genetic syndromes and high susceptibility to infections, beginning with the Rubinstein- Taybi syndrome. The primary immunodeficiences are largely deemed as privileged situations for the elucidation of the mechanisms that regulate the growth, the differentiation, the communication and the effector functions of the cells involved in the immune response, particularly the ones related to resistance to infections. Therefore, this project can contribute for the development of the immunological research in our country and, also, for a better training of clinical and pediatric immunologists, as well as of basic researchers in human immunology. The present initiative is also associated to a continuous education project (Primary Immunodeficiences Diagnosis and Management Centers for Brazil), funded by St. Jude's Hospital, at Memphis, TN, USA. This association will increase the professional expertise (of pediatricians and generalist doctors) for early case detection and appropriated clinical and therapeutic approaches. lt will provide better diagnostic and treatment conditions for these diseases in our country, improving the patients' quality of life, avoiding sequels and offering them the benefit, in the future, of genetic therapy. (AU)

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Scientific publications (7)
(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)
JESUS, ADRIANA A.; OSMAN, MAZEN; SILVA, CLOVIS A.; KIM, PETER W.; PHAM, TUYET-HANG; GADINA, MASSIMO; YANG, BARBARA; BERTOLA, DEBORA R.; CARNEIRO-SAMPAIO, MAGDA; FERGUSON, POLLY J.; RENSHAW, BLAIR R.; SCHOOLEY, KEN; BROWN, MICHAEL; AL-DOSARI, ASMA; AL-ALAMI, JAMIL; SIMS, JOHN E.; GOLDBACH-MANSKY, RAPHAELA; EL-SHANTI, HATEM. A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil. ARTHRITIS AND RHEUMATISM, v. 63, n. 12, p. 4007-4017, DEC 2011. Web of Science Citations: 42.
JESUS, A. A.; LIPHAUS, B. L.; SILVA, C. A.; BANDO, S. Y.; ANDRADE, L. E. C.; COUTINHO, A.; CARNEIRO-SAMPAIO, M. Complement and antibody primary immunodeficiency in juvenile systemic lupus erythematosus patients. Lupus, v. 20, n. 12, p. 1275-1284, OCT 2011. Web of Science Citations: 34.
TORRES, L. C.; SUGAYAMA, S. M. M.; ARSLANIAN, C.; SALES, M. M.; CARNEIRO-SAMPAIO, M. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. Brazilian Journal of Medical and Biological Research, v. 43, n. 12, p. 1215-1224, DEC 2010. Web of Science Citations: 6.
PALMEIRA, PATRICIA; COSTA-CARVALHO, BEATRIZ T.; ARSLANIAN, CHRISTINA; PONTES, GERLANDIA N.; NAGAO, APARECIDA T.; CARNEIRO-SAMPAIO, MAGDA M. S. Transfer of antibodies across the placenta and in breast milk from mothers on intravenous immunoglobulin. PEDIATRIC ALLERGY AND IMMUNOLOGY, v. 20, n. 6, p. 528-535, SEP 2009. Web of Science Citations: 34.
AGUDELO-FLÓREZ‚ P.; PRANDO-ANDRADE‚ C.C.; LÓPEZ‚ J.A.; COSTA-CARVALHO‚ B.T.; QUEZADA‚ A.; ESPINOSA‚ F.J.; DE SOUZA PAIVA‚ M.A.; ROXO JR‚ P.; GRUMACH‚ A.; JACOB‚ C.A.; OTHERS. Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics. PEDIATRIC BLOOD & CANCER, v. 46, n. 2, p. 243-252, 2006.
PIEDAD AGUDELO-FLÓREZ; SARA NAVARRO V; PAMELA LUTTGES D; JUAN ALVARO LÓPEZ; XIMENA NORAMBUENA R; CARMEN LUZ NAVARRETE S; ARNOLDO QUEZADA L; MICHAEL SPENCER Y; ANTONIO CONDINO-NETO; MÓNICA CORNEJO DE L. Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease. Revista médica de Chile, v. 134, n. 8, p. 965-972, Ago. 2006.
P. AGUDELO-FLÓREZ; J.A. LÓPEZ; J. REDHER; M.M.S. CARNEIRO-SAMPAIO; B.T. COSTA-CARVALHO; A.S. GRUMACH; A. CONDINO-NETO. The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease. Brazilian Journal of Medical and Biological Research, v. 37, n. 5, p. 625-634, Maio 2004.

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