Deficiency of purine nucleoside phosphorylase causes
**Core Concept**
Purine nucleoside phosphorylase (PNP) is an enzyme crucial for the recycling of purine nucleotides. It plays a key role in the catabolism of deoxyguanosine, a substrate that can accumulate in cells due to its inability to be properly degraded. This accumulation of deoxyguanosine can lead to the inhibition of T-cell development and function, resulting in a specific type of immunodeficiency.
**Why the Correct Answer is Right**
The deficiency of PNP leads to an accumulation of deoxyguanosine, which is toxic to T-cells. Deoxyguanosine inhibits the proliferation of T-cells by interfering with their DNA synthesis. As a result, T-cell development is impaired, leading to a condition known as T-cell immunodeficiency or cellular immunodeficiency. This is because T-cells are responsible for cell-mediated immunity, and their dysfunction leads to a compromised ability to fight off viral infections and other pathogens that require cell-mediated immunity.
**Why Each Wrong Option is Incorrect**
**Option A:** Complement deficiency refers to a group of disorders that affect the complement system, a part of the innate immune system that helps clear pathogens from the body. Deficiency of PNP does not directly affect the complement system.
**Option C:** Humoral immunodeficiency refers to a condition where there is a deficiency in antibody production, which is typically associated with B-cell dysfunction or lack. Deficiency of PNP primarily affects T-cell development and function, not B-cell function.
**Option D:** Combined immunodeficiency refers to a condition where both cell-mediated and humoral immunity are impaired. While PNP deficiency primarily affects T-cell development, it is not a combined immunodeficiency.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that PNP deficiency can present with a range of symptoms, including recurrent viral infections, failure to thrive, and delayed development. Early diagnosis and treatment are critical to prevent long-term complications.
**Correct Answer Line**
β Correct Answer: B. Cellular immunodeficeincy