… immunodeficiencies that were otherwise not severe enough during childhood to have led to
a specific diagnosis. … survival of many children with primary immunodeficiency into adult life. …

… complete clinical validation greatly increases the diagnostic yield of severe primary
immunodeficiency. Establishing a molecular diagnosis enables early immune reconstitution through …

… In conclusion, molecular diagnostics are of great value in good clinical care and are gaining
a prominent position in the management of individual patients. Many PID candidate genes …

… The study shows that targeted NGS is an effective diagnostic strategy for PIDs in countries
with limited diagnostic resources. Molecular diagnosis of PID helps in genetic counseling and …

SciELO - Brasil - Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies …

… , a molecular approach provides a definitive result to the origin of the immunodeficiency.
Fortunately, recent mutation scanning techniques have facilitated the molecular diagnosis of …

… Because one of these patients was previously diagnosed as having hyper-IgM syndrome
(HIES), 15 patients with hyper-IgM syndrome from 13 families without a molecular diagnosis …

… molecular basis of the disorder will secure the diagnosis. We believe molecular diagnostic
… We have described the development of a customised molecular testing service for PIDs at …

… in molecular genetics and immunology have resulted in the identification of a growing number
of genes causing primary immunodeficiencies (PIDs) in … Characterization of the molecular …

… greatly as more primary immune deficiencies are defined, and … evaluation of a suspected
primary immunodeficiency, as well as … in platelets or leukocytes or by molecular methods [35]. …