All are true regarding agammaglobulinemia except –
**Core Concept:** Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by the absence or reduced levels of immunoglobulins (antibodies) in the blood, leading to increased susceptibility to severe bacterial infections.
**Why the Correct Answer is Right:** Agammaglobulinemia can be classified into two types: Bruton's agammaglobulinemia (X-linked) and common variable immunodeficiency (CVID). Bruton's agammaglobulinemia is caused by mutations in the X-linked gene (BTK) that results in impaired B-cell development, while CVID is a heterogeneous disorder characterized by T-cell and B-cell dysfunction.
**Why Each Wrong Option is Incorrect:**
A. **Incorrect:** Agammaglobulinemia can be caused by defects in T-cell development, but this option focuses on T-cell dysfunction, which is not a defining feature of agammaglobulinemia.
B. **Incorrect:** Agammaglobulinemia is associated with severe bacterial infections, but this option focuses on a less severe manifestation, which is incorrect.
C. **Incorrect:** Agammaglobulinemia is a primary immunodeficiency disorder, whereas this option focuses on a secondary cause of immunodeficiency.
D. **Incorrect:** Agammaglobulinemia is characterized by absent or reduced immunoglobulins in the blood, while this option focuses on immunoglobulin levels remaining normal in agammaglobulinemia.
**Clinical Pearl:**
In agammaglobulinemia, the absence or reduced immunoglobulins leads to increased susceptibility to severe bacterial infections, particularly those involving encapsulated bacteria like Streptococcus pneumoniae, Haemophilus influenzae, and Salmonella species. Aggressive antibiotic prophylaxis is essential for the management of patients with agammaglobulinemia to prevent infections and their severe complications.