What is the characteristic blood disorder associated with adenosine deaminase deficiency?

What is the characteristic blood disorder associated with adenosine deaminase deficiency?

• A. Chronic lymphocytic leukemia
• B. Severe combined immunodeficiency (SCID)
• C. Multiple myeloma
• D. Acute myeloid leukemia

Answer: (B)

Adenosine deaminase (ADA) deficiency is associated with severe combined immunodeficiency (SCID), a genetic disorder that results in a severely compromised immune system. ADA plays a crucial role in purine metabolism, particularly in the deamination of adenosine to inosine. When this enzyme is deficient, toxic metabolites accumulate, leading to lymphocyte apoptosis and significant impairment in both T-cell and B-cell function. As a result, individuals with ADA deficiency demonstrate severe immunological dysfunction, which manifests as SCID. This condition is characterized by increased susceptibility to infections, failure to thrive, and a lack of effective immune response. Typically, without intervention, it can lead to life-threatening infections during infancy. In contrast, the other options listed relate to different types of hematological malignancies or disorders that do not share the specific pathophysiological link with adenosine deaminase deficiency. Understanding the role of ADA in immune function underscores the significance of its deficiency leading to SCID.

Adenosine deaminase (ADA) deficiency is associated with severe combined immunodeficiency (SCID), a genetic disorder that results in a severely compromised immune system. ADA plays a crucial role in purine metabolism, particularly in the deamination of adenosine to inosine. When this enzyme is deficient, toxic metabolites accumulate, leading to lymphocyte apoptosis and significant impairment in both T-cell and B-cell function.

As a result, individuals with ADA deficiency demonstrate severe immunological dysfunction, which manifests as SCID. This condition is characterized by increased susceptibility to infections, failure to thrive, and a lack of effective immune response. Typically, without intervention, it can lead to life-threatening infections during infancy.

In contrast, the other options listed relate to different types of hematological malignancies or disorders that do not share the specific pathophysiological link with adenosine deaminase deficiency. Understanding the role of ADA in immune function underscores the significance of its deficiency leading to SCID.