Original Article

Genetic Evaluation of Patients Suspected to Immunodeficiency Referred to Immunodeficiency Clinic of Akbar Hospital in Mashhad

Abstract

Background: The purpose of this study was genetic evaluation of patients suspected of immunodeficiency,
without a definitive diagnosis, referred to the Immunodeficiency Clinic of Akbar Hospital in Mashhad in
2021-2022.


Methods: In this study, patients suspected of immunodeficiency, without a definitive diagnosis, referred to
an immunodeficiency clinic were included A complete clinical and paraclinical examination has been done
by expert specialists and clinical geneticists. Blood samples were taken for genetic analysis using the Exome
Sequencing technique followed by comprehensive bioinformatics analysis. Parents and healthy offspring
were assessed for the candidate gene variants.


Results: In this study, 185 patients were included; 58.56% of them were male; The average age of the
participants was 9.28±5.40 years, and consanguineous marriage of parents was observed in 79.8 % of
cases. Pneumonia with 33.51% was the most common clinical manifestation in patients with suspected
immunodeficiency. In total, 41.14% of patients suffered from combined immunodeficiency, 26 .86% of them
had defects of phagocyte number, function, or both; and 24% had predominantly antibody deficiencies.
Hyper IgE syndrome was detected in 16% of patients, SCID and CGD each in 14.86% of patients, CVID
in 12% of patients, and LAD in 7.43% of them. In 37.04% of the identified genes, there was a discrepancy
between clinical and genetic diagnosis in patients.


Conclusion: The most common clinical manifestation of patients suspected of primary immunodeficiency
is pneumonia; therefore, patients who suffer from recurrent respiratory infections should be checked for
genetic immunodeficiency. In this study, most patients were in the groups of immunodeficiencies affecting
multiple cell types, defects of phagocyte number, function, or both; and predominantly antibody deficiencies,
respectively. The most common diseases diagnosed were: Hyper IgE syndrome, SCID and CGD, CVID, and
LAD.

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IssueVol 5, No 4 (2022) QRcode
SectionOriginal Article
DOI https://doi.org/10.18502/igj.v5i4.16178
Keywords
Genetic Immunodeficiency Clinical Diagnosis Molecular Analysis PID
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How to Cite
1.
Takhari F, Ahanchian H, Moazzen N, Purbadakhshan N, Aalami MH, Tafrishi R, Ghayour Karimani E, Abbasi Shaye Z. Genetic Evaluation of Patients Suspected to Immunodeficiency Referred to Immunodeficiency Clinic of Akbar Hospital in Mashhad. Immunol Genet J. 2022;5(4):141-148.