Systematic classification of primary immunodeficiencies based on clinical, pathological and laboratory parameters

Crina Samarghitean, Csaba Ortutay and Mauno Vihinen

J Immunol 2009 Dec 1 183(11):7569-75


Primary immunodeficiencies (PIDs) are a large and heterogeneous group of disorders. PIDs are mainly rare hereditary disorders of the immune system which often have serious consequences. These diseases represent a challenge in their diagnosis and treatment due to overlapping symptoms and similarities between diseases.

More than 200 PIDs have been described for which 167 genetic etiology known. PIDs have historically been defined and classified according to immunological phenotypes. We develop a systematic, mathematical classification of PIDs. The foundation of the method is the description of the diseases based on 87 clinical and laboratory parameters. Altogether six methods belonging to two categories, clustering and network analysis, were used to organize the diseases based on the parameters.

See also: Faculty of 1000

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