Combined Immunodeficiencies

Mehmet KILINÇa
aNecmettin Erbakan University Faculty of Medicine, Department of Internal Medicine, Division of Immunology and Allergy Diseases, Konya, Türkiye

Kılınç M. Combined immunodeficiencies. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.45-50.

ABSTRACT
Inborn errors of immunity, also called as primary immunodeficiencies (PIDs), are a group of congenital and heterogeneous diseases affecting the immune system. Combined immunodeficiencies (CIDs) constitute a subgroup of PIDs characterized by T-cell dysfunction, and typically present with recurrent infections, inflammation, autoimmunity, malignancy, and allergic manifestations. Based on their pathophysiology, CIDs are grouped into different classes, namely T cell development defects, T cell receptor signaling defects, cytokine signaling defects, cytoskeleton adhesion, migration and organization defects, apoptosis, DNA repair, and metabolic pathways. In addition to recurrent bacterial infections, invasions by opportunistic pathogens such as mycobacteria and fungi can also be observed. Early diagnosis, even before clinical symptoms appear, is possible with newborn screening. This also allows for a better management, thereby improving the prognosis. In this review diagnosis, treatment, and clinical management of CIDs are discussed and detailed.

Keywords: Primary immunodeficiency; combined immunodeficiencies; inborn errors of immunity; monogenic defects

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