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Fig. 1 | Genome Medicine

Fig. 1

From: Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Fig. 1

Clinical and immunophenotypic overview of the 254 patients included in the diagnostic PID cohort, including percentages of patients with genetic diagnoses per subgroup. a For 219 patients, pathogens and/or autoimmunity was identified. b Immunophenotypic defects were characterized in 194 patients. Quantification of blood cell numbers, antibody levels, and cytokine production aided to determine the genetic diagnosis for these patients. c The diagnostic yield per cohort based on the country from which the patients were referred. Compared to European patients, a higher percentage of patients from Saudi Arabia received a genetic diagnosis

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Genome Medicine

ISSN: 1756-994X

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