publication . Doctoral thesis . 2011

Diagnóstico Molecular y Genético de Inmunodeficiencias Primarias ligadas al X

Martínez Martínez, Laura;
Open Access Spanish; Castilian
  • Published: 25 Mar 2011
  • Publisher: Universitat Autònoma de Barcelona
Abstract
Primary Immunodeficiencies (PIDs) are congenital disorders of immune system characterized by increased susceptibility to infections. More than 200 entities have been included under this definition. Some of them have an X-linked inheritance, giving them certain peculiarities. In this Thesis, we presented the results of 28 patients, almost all males, with a suspicion of PID due to the higher frequency and severity of infections. First, we evaluated them immunologically. These data together with clinical manifestations and familial antecedents allowed us to establish a presumptive diagnosis of PID. Consequently, we performed specific functional, molecular and genet...
Subjects
free text keywords: Immunodeficiencias primarias, Herencia ligada al sexo, Diagnóstico genético, Ciències Experimentals, 616
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