Publication details

Diagnostika vrozených poruch imunity

Title in English Diagnostics of primary imunodeficiencies
Authors

POLOUČKOVÁ Andrea MEJSTŘÍKOVÁ Ester RAFFÁČ Štefan THON Vojtěch

Year of publication 2014
Type Chapter of a book
MU Faculty or unit

Faculty of Medicine

Citation
Description Early diagnosis of immunodeficiency makes possible early definitive therapy and avoids the complications of pretreatment infections. B-cell defects constitute the majority of primary immunodeficiencies. All are characterized by the reduction in or absence of immunoglobulins and/or specific antimicrobial antibodies. T-cell immunodeficiency defects become apparent as combined T- and B-cell deficiencies. Therefore, implementation of TRECs and KRECs into the newborn screening from dried blood spot will increase the preventive approach to early immunodeficiency diagnostics. Infants undergoing transplantation in the first 3 months of life have a much higher rate of survival than those undergoing transplantation later.

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