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2019, Number 2

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Rev Cubana Hematol Inmunol Hemoter 2019; 35 (2)

Béguez-Steinbrinck-Higashi syndrome: a new eponymous for the Chediak-Higashi syndrome

Castro CB, Ballester SJM, Peña SMA, Batista DA, Robinson RRJ

Language: Spanish
References: 39
Page: 1-18
PDF size: 533.86 Kb.


ABSTRACT

On December 1943, Dr. Antonio María Béguez César detailed in the Journal of the Cuban Pediatric Society the clinical and hematologic aspects of a rare disorder suffered by three children from a family in the locality, who expired during the first years of their lives in Santiago de Cuba. At that moment there was no report about similar findings in the medical literature, therefore it is considered the first description of a disease denominated by him as familial malignant chronic neutropenia with atypical granulations of leucocytes, misleadingly revealed as Chediak-Higashi syndrome instead of Béguez-Steinbrinck-Higashi syndrome. This disease consists of a primary immunodeficiency induced by mutations in the regulator gen of the lysosomal function, which is able to alter the formation of phagolysosoma in the neutrophil and determine the presence of giant secretor granules associated with the predominance of recurrent infections provoked by pyogen bacteria. Here, a brief history of it’s discovery as well as an updating of it’s physiopathology are carried out.


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