alexa Variable Phenotypic Presentation of Primary Immunodeficiency Diseases

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Variable Phenotypic Presentation of Primary Immunodeficiency Diseases

Primary Immunodeficiency Diseases (PIDs) are a heterogeneous group of disorders that affect the development or the function of the immune system mostly presenting as severe recurrent infections with an increased incidence of autoimmunity and malignancies. The spectrum of such diseases has grown during the past 50 years, with currently more than 180 different syndromes having been described [1]. In most cases PIDs are monogenic disorders that follow a simple Mendelian inheritance. Some PIDs are particularly common in certain geographical areas because of founder effects, restricted genetic isolates or higher consanguinity rates. Despite major advances over the last 20 years in the molecular characterization of PIDs, many patients still go undiagnosed or are diagnosed late, with adverse clinical consequences and are faced with lifelong more

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