All are true about Wiskott-Aldrich syndrome except
## Core Concept
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by the clinical triad of **eczema**, **thrombocytopenia** (low platelet count), and **recurrent infections**. It results from mutations in the WAS gene, which encodes for the Wiskott-Aldrich syndrome protein (WASp), crucial for platelet and T-lymphocyte function.
## Why the Correct Answer is Right
The WASp plays a significant role in the regulation of the actin cytoskeleton in platelets and T cells. This regulation is essential for the proper functioning of these cells, including platelet aggregation and T-cell activation. A deficiency or malfunction of WASp leads to the characteristic features of WAS: eczema due to impaired skin barrier function, thrombocytopenia with small platelets leading to increased risk of bleeding, and recurrent infections due to impaired immune response.
## Why Each Wrong Option is Incorrect
- **Option A:** Typically, WAS is associated with **small platelets**, not large. This characteristic feature helps differentiate it from other thrombocytopenias.
- **Option B:** The syndrome indeed presents with **eczema**, which is one component of the clinical triad.
- **Option C:** **Recurrent infections** are a hallmark due to the immune dysfunction.
- **Option D:** The condition is inherited in an **X-linked recessive pattern**, primarily affecting males.
## Clinical Pearl / High-Yield Fact
A key clinical pearl is that Wiskott-Aldrich syndrome is often suspected in a male child presenting with a combination of eczema, thrombocytopenia (with small platelets), and recurrent infections. Early diagnosis is crucial as the condition can lead to severe complications, including bleeding, infections, and autoimmune disorders. The syndrome is also associated with a predisposition to **malignancy**, particularly lymphomas.
## Correct Answer: A.