Your browser doesn't support javascript.
loading
Inmunodeficiencia combinada con compromiso cutáneo asociada a mutación en DOCK8. / [Combined immunodeficiency with cutaneous manifestations associated with DOCK8 mutation].
Arch Argent Pediatr ; 112(4): e147-51, 2014 Aug.
Article em Es | BINACIS | ID: bin-133513
ABSTRACT
Different primary immunodeficiencies present increased levels of IgE and cutaneous infections of viral etiology. We report a case of a 2 y, 8 m old boy with combined immunodeficiency, dermatitis and disseminated molluscum contagiosum. The patient presented high titers of IgE, eosinophilia and pronounced TCD8 lymphopenia. Impaired proliferation assays and abnormal antibody response to vaccination were found. Normal results of ZAP-70 protein, NK function, and HLA I levels, to test quantitatives and functional defects of cytotoxic cells, lead us to suspect a mutation in DOCK8 gene. Positive result in molecular study together with clinical and immunology features in the patient confirmed the diagnosis of this new immunodeficiency, being to the authors knowledge the first case recorded in a paediatric hospital in our country.
Buscar no Google
Texto completo: 1 Coleções: 01-internacional / 06-national / AR Base de dados: BINACIS / LILACS Assunto principal: Dermatopatias / Fatores de Troca do Nucleotídeo Guanina / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: Es Revista: Arch Argent Pediatr / Arch. argent. pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Argentina País de publicação: Argentina
Buscar no Google
Texto completo: 1 Coleções: 01-internacional / 06-national / AR Base de dados: BINACIS / LILACS Assunto principal: Dermatopatias / Fatores de Troca do Nucleotídeo Guanina / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: Es Revista: Arch Argent Pediatr / Arch. argent. pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Argentina País de publicação: Argentina