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Updated: Mar 22, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Multivariate analysis of genealogical markers in adults with primary immunodeficiencies]
1Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences, Yekaterinburg, Russia; Sverdlovsk Regional Clinical Hospital One, Yekaterinburg, Russia; Regional Children's Clinical Hospital One, Yekaterinburg, Russia.
Aim:
To study the genealogy of adult patients with primary immunodeficiencies (PID) and to analyze its data in the relatives of these patients.
Materials And Methods:
A genealogical analysis was carried out in 74 adult patients with PID and 200 adults without this condition, by examining groups of signs in the relatives in at least 4 generations, the genealogical markers were an atypical infectious and inflammatory process; allergic diseases; autoimmune diseases; the presence of relatives with cancers; cases of reproductive dysfunction; deaths from infectious diseases and/or cancers in children; and congenital malformations. The percentage of relatives with the above genealogical markers of the total number of the relatives in 4 generations was used as an indicator. The analysis applied nonparametric methods, such as quartile analysis, Spearman's correlation coefficient, and Mann-Whitney test to verify the statistical significance of differences between the independent groups. Multifactor prediction models were based on the decision theory (Wald-Bayesian analysis) and classification trees. At Stage 1, the investigators made a univariate analysis, the data of which were used to perform a correlation analysis of the indicators. Multifactor prediction models were based on the decision theory (Wald-Bayesian analysis) and classification trees.
Results:
The genealogical markers were identified and analyzed using different statistical methods and
Conclusion:
were made on prognostically significant indicators.
Conclusion:
The findings may be recommended for practical use in order to enhance the efficiency of work with patients having various immunopathological syndromes.
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