Association of dysgranulopoietic neutrophils and Rubinstein-Taybi syndrome (2005)
- Authors:
- USP affiliated authors: CONDINO NETO, ANTONIO - ICB ; SAMPAIO, MAGDA MARIA SALES CARNEIRO - ICB
- Unidade: ICB
- Assunto: IMUNOLOGIA
- Language: Inglês
- Abstract: Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by specific dysmorphisms, failure to thrive, recurrent infections and cancer predisposition Objective: In this work we present part of the immunocompetence evaluation of 14 Brazilian RTS patients. Methods: The following exams were performed: 4 weekly white blood cell counts (WBC) in all patients, electron microscopy of WBC and bone marrow aspirate smears in 2 patients. Results: On performing weekly peripheral blood smears (PBS) of 14 Brazilian RTS patients we observed persistent leukocytosis including 40 to 50% of the total polymorphonuclear (PMN) leukocyte count with dysgranulopoietic features. Ultrastructural PMN cell morphology of 2 patients revealed cytoplasmatic areas devoid of granules. Interestingly, the PMN findings were also observed in the PBS of 7 parents and one grandmother. A detailed physical examination of these individuals revealed some characteristic features of RTS. Conclusion: The identification of dysgranulopoietic PMNs together with some characteristic RTS features may be helpful in diagnosing mildly affected cases
- Imprenta:
- Publisher: Comissão de Cultura e Extensão Universitária do ICB/USP
- Publisher place: São Paulo
- Date published: 2005
- Source:
- Título: Resumos
- Conference titles: Congresso do Instituto de Ciências Biomédicas
-
ABNT
TORRES, Leuridan Cavalcante et al. Association of dysgranulopoietic neutrophils and Rubinstein-Taybi syndrome. 2005, Anais.. São Paulo: Comissão de Cultura e Extensão Universitária do ICB/USP, 2005. . Acesso em: 12 jun. 2025. -
APA
Torres, L. C., Sugayama, M. M. S., Sales, M. M., Condino-Neto, A., & Carneiro-Sampaio, M. M. S. (2005). Association of dysgranulopoietic neutrophils and Rubinstein-Taybi syndrome. In Resumos. São Paulo: Comissão de Cultura e Extensão Universitária do ICB/USP. -
NLM
Torres LC, Sugayama MMS, Sales MM, Condino-Neto A, Carneiro-Sampaio MMS. Association of dysgranulopoietic neutrophils and Rubinstein-Taybi syndrome. Resumos. 2005 ;[citado 2025 jun. 12 ] -
Vancouver
Torres LC, Sugayama MMS, Sales MM, Condino-Neto A, Carneiro-Sampaio MMS. Association of dysgranulopoietic neutrophils and Rubinstein-Taybi syndrome. Resumos. 2005 ;[citado 2025 jun. 12 ] - Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID1 Registry
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