Abstract

GARCIA NIEBLAS, María del Carmen et al. Wiskott Aldrich Syndrome.  Presentation of a Case. CCM [online]. 2014, vol.18, n.3, pp. 544-550. ISSN 1560-4381.

The Wiscott Aldrich Syndrome is a well-defined primary immunodeficiency X- linked recessive disorder, the mutated gene encodes a cytoplasmatic protein in lymphocytes and megakaryocytes which is important in actin polymerization and cytoskeletal reorganization .The classic manifestations involve bleeding, infections and eczema. The first symptoms may appear at birth with petechial hemorrhage, diarrhea with blood, while infections and eczema are present during the first year of age, otitis media is an infection that occurs more frequently. From the immunological point of view it is characterized by low levels immunoglobulin M, immunoglobulin A and E are high, while immunoglobulin G may be normal together with thrombocytopenia. This disorder was diagnosed in a three- year- month infant who was admitted at intensive care unit for a long period of time. The patient died when he was two years old due to generalized infection

Keywords : Wiskott -Aldrich Syndrome; X-linked chromosome genetic diseases; cellular immunity.

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