Common Genetic Mutations in Adults with Primary Immunodeficiency Diseases

Mehmet Emin GEREKa , Fatih ÇÖLKESENa
aNecmettin Erbakan University Faculty of Medicine, Department of Internal Medicine, Division of Immunology and Allergy Diseases, Konya, Türkiye

Gerek ME, Çölkesen F. Common genetic mutations in adults with primary ımmunodeficiency diseases. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.83-97.

ABSTRACT
Primary immunodeficiencies (PIDs) are disorders that impair the normal development or function of the immune system. PIDs make individuals more susceptible to infections, autoimmune diseases, and cancer. Genetic changes in various components of the immune system are the main cause of PIDs. These disorders can appear at any age. However, some PIDs are more common or severe in adults. Examples are common variable immunodeficiency (CVID), selective immunoglobulin A deficiency (SIgAD), chronic granulomatous disease (CGD), and autoimmune lymphoproliferative syndrome (ALPS). Diagnosing PIDs in adults is challenging due to the diverse clinical manifestations, possible symptom overlap with other conditions, and limited awareness among clinicians. The treatment of PIDs in adults depends on the type and severity of the disorder. It may include immunoglobulin replacement therapy, antimicrobial prophylaxis, immunomodulatory drugs, or hematopoietic stem cell transplantation. This chapter provides an overview of the common genetic variants in adults with PIDs. It also explains the molecular and immunological effects of genetic changes, related clinical symptoms, and potential complications. Moreover, it discusses the available treatment options for adult patients with PID.

Keywords: Adult; genetics; mutation; primary immunodeficiency diseases

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