Agammaglobulinemia

Yasemin AKGÜL BALABANa , Sait YEŞİLLİKa
aUniversity of Health Sciences Gülhane Training and Research Hospital, Clinic of Immunology and Allergy Diseases, Ankara, Türkiye

Akgül Balaban Y, Yeşillik S. Agammaglobulinemia. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.10-5.

ABSTRACT
Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by the absence of circulating immunoglobulin-producing B cells, resulting in severe antibody deficiency and recurrent infections. The first described and most commonly known form is X-linked agammaglobulinemia (Bruton’s disease), but there are 3 other forms. Defects in B cell development are responsible for its pathogenesis. Clinically, patients usually present with recurrent infections. The cornerstone of treatment is immunoglobulin replacement therapy (IgRT). There are studies showing that IgRT greatly reduces morbidity and mortality. In addition to IgRT, patients may require prophylactic antibiotics. Hematopoietic cell transplantation and/or stem cell gene studies may also be considered as an alternative treatment option.

Keywords: Agammaglobulinemia; bruton; primary immunodeficiency

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