ACFd

AFd is a rare genetic disorder affecting the ability of the body's cells to produce functional adenosine deaminase, an enzyme necessary for the breakdown of DNA. This deficiency results in the accumulation of toxic substances in cells, leading to various complications.

Adenosine deaminase deficiency is often inherited in an autosomal recessive manner, meaning an individual must inherit a mutated gene from both parents to be affected. The disorder is typically evident in early childhood, with symptoms including recurrent infections, respiratory difficulties, and developmental delays.

As cells become damaged due to the accumulation of toxic byproducts, symptoms worsen over time. Untreated, patients with AFD often develop severe complications, including severe combined immunodeficiency (SCID), a severe and potentially life-threatening condition. In cases of AFD, the majority of patients fail to thrive and usually die within the first few years of life.

Treatment of AFD often focuses on supplements and medications to help manage symptoms, although these are largely palliative. Bone marrow transplantation has been explored as a potential treatment, with the goal of replacing the affected immune system with a healthy one. However, the procedure carries its own risks and is not without complications.

Research into AFD is relatively limited due to its rarity. Nonetheless, continuing studies aim to better understand the underlying mechanisms of the disorder and explore potential treatments. This may require developing new therapeutic approaches and investigating new applications for treatments currently in use.