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2.
J Pak Med Assoc ; 58(11): 643-5, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19024141

RESUMEN

Leukocyte adhesion defect (LAD) is a rare, autosomal recessive primary immunodeficiency disorder of phagocytes, in which there is defective aggregation at the site of infection due to the absence of surface integrins. Diagnosis is based primarily on flowcytometric analysis of neutrophils for the surface expression of CD11, CD18 and CD15s. We describe here a case of a 7-months-old boy who presented with a characteristic history of recurrent infections, marked leukocytosis and delayed separation of umbilical cord. The diagnosis was established by demonstration of the absence of integrins on the surface of patient's neutrophils by flowcytometric analysis.


Asunto(s)
Síndrome de Deficiencia de Adhesión del Leucocito/diagnóstico , Diagnóstico Diferencial , Resultado Fatal , Citometría de Flujo , Humanos , Lactante , Masculino
3.
J Pak Med Assoc ; 58(9): 516-8, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18846805

RESUMEN

Chronic granulomatous disease (CGD) is an X-linked/ autosomal recessive primary immunodeficiency disorder characterized by recurrent infections. The diagnosis is primarily based on simple Nitrobluctetrazolium dye reduction test. We describe here an unusual case of an 8 year old girl, as the disease is X-linked in most of the cases.


Asunto(s)
Enfermedad Granulomatosa Crónica/diagnóstico , Profilaxis Antibiótica , Niño , Femenino , Enfermedad Granulomatosa Crónica/tratamiento farmacológico , Enfermedad Granulomatosa Crónica/genética , Humanos , Indicadores y Reactivos , Nitroazul de Tetrazolio
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