Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.

Aygun, Ayse; Topyildiz, Ezgi; Geyik, Mehmet; Karaca, Neslihan Edeer; Durmaz, Asude; Aksu, Guzide; Aykut, Ayca; Kutukculer, Necil

Aygun, Ayse; Topyildiz, Ezgi; Geyik, Mehmet; Karaca, Neslihan Edeer; Durmaz, Asude; Aksu, Guzide; Aykut, Ayca; Kutukculer, Necil.

Afiliación

Aygun A; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey.
Topyildiz E; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey.
Geyik M; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey.
Karaca NE; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey.
Durmaz A; Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.
Aksu G; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey.
Aykut A; Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.
Kutukculer N; Faculty of Medicine, Department of Pediatric Immunology, Ege University, 35100, Bornova, Izmir, Turkey. necil.kutukculer@ege.edu.tr.

Immunol Res ; 72(2): 225-233, 2024 Apr.

Article en En | MEDLINE | ID: mdl-37840117

RESUMEN

Identification of the causes of monogenetic common variable immunodeficiency (CVID) patients has rapidly increased in the last years by means of worldwide availability of appropriate genetic diagnostic methods. However, up to date, very limited numbers of reports demonstrating the role of geography, ethnicity, and consanguinity have been published. Here, we reported the first study of Turkish CVID patients and compared them with the results of three countries from America, Europe, and Asia. A total of 100 children diagnosed as CVID according to the criteria of European Society for Immunodeficiencies were enrolled, and they were genetically analyzed by using targeted next-generation sequencing and whole-exome sequencing. The median age of our patients was 5.8 years (range, 3.0-16.0 years) at clinical diagnosis and 9.0 years (range, 4.8-21.0 years) at the time of genetic diagnosis. The consanguinity rate was 24%. Disease-causing pathogenic variants were defined in 40% of patients in a total of 17 different genes. Sixteen of 40 identified pathogenic variants were novel (40%). We determined 18 surface molecular defects, 10 cytosolic defects, 9 nuclear defects, and 3 others. In our cohort, the most common gene was TACI (15/40 in pathogenic variant identified cases and 15/100 in all cases) followed by the others such as PLCÒ¯2, LRBA, TCF3, and STAT1. In contrast to our expectations, our results were more similar to American and European population rather than Asians, although we also have high consanguinity rates and live on the geography between Europe and Asia. Genetic investigation is a great challenge, because of the complexity and heterogeneity of the disease, and each country has to know their own current genetic landscape in CVID for a better and successful management of the patients.

Palabras clave

Common variable immunodeficiency; Targeted next-generation sequencing; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Immunol Res Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos

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