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

Fawzia Takhari; Hamid Ahanchian; Nasrin Moazzen; Nafiseh Purbadakhshan; Mohammad Hasan Aalami; Rana Tafrishi; Ehsan Ghayour Karimani; Zahra Abbasi Shaye

doi:10.18502/igj.v5i4.16178

Fawzia Takhari Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Hamid Ahanchian Allergy Research Center, School of medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Nasrin Moazzen Allergy Research Center, School of medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Nafiseh Purbadakhshan Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Mohammad Hasan Aalami Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Rana Tafrishi Department of Allergy and Clinical Immunology, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran
Ehsan Ghayour Karimani Department of Genetics, Islamic Azad University of Mashhad, Mashhad, Iran
Zahra Abbasi Shaye Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

DOI: https://doi.org/10.18502/igj.v5i4.16178

Keywords: Genetic; Immunodeficiency; Clinical Diagnosis; Molecular Analysis; PID.

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.