Wiskott–Aldrich Syndrome (WAS) navigating through Rare Disease with essence of Nutrition

Wiskott–Aldrich Syndrome (WAS) is a rare X-linked recessive immunodeficiency that presents with a triad of:

• Recurrent infections (due to dysfunctional T- and B-cells),
• Eczema (from dysregulated immunity and inflammation),
• Thrombocytopenia (low platelet count → easy bleeding).

The condition arises from mutations in the WAS gene, which encodes the WAS protein (WASP). This protein regulates actin polymerization in immune cells, so when it’s defective, cells cannot signal or move properly. The result: ineffective immunity, autoimmunity risk, and fragile platelets.

Global Impact: Extremely rare (~1 in 100,000 male births). Females are usually carriers. HSCT (stem cell transplant) and emerging gene therapy remain the only curative options, but nutrition can optimize resilience and improve quality of life.

🍽️ Nutrition and WAS: More than Supportive Care

Children with WAS face unique nutritional challenges: recurrent fevers, infections, antibiotics, bleeding risks, and eczema, all of which influence nutrient status.

Key nutritional considerations:

1. Immune FunctionVitamin D: Modulates T-cell and macrophage activity. Deficiency worsens infection susceptibility.Zinc: Critical for innate immunity, wound healing, and skin integrity.Selenium: Supports antioxidant enzymes (like glutathione peroxidase), reducing oxidative stress from chronic inflammation.
2. Inflammation & Skin HealthOmega-3 fatty acids (EPA, DHA) reduce eczema severity and systemic inflammation.Vitamin E + Polyphenols act as antioxidants to counter immune-cell oxidative stress.
3. Platelet Health & BleedingWhile nutrition cannot “fix” thrombocytopenia, iron, folate, and B12 help in red blood cell health, preventing compounding anemia.
4. Gut & MicrobiotaRepeated antibiotics disturb gut flora → Probiotics and prebiotics can help restore balance, reducing infections and GI disturbances.
5. Hydration & Water BalanceFever, diarrhea, and infections increase water loss.Adequate hydration is the simplest yet most overlooked medical nutrition therapy to maintain circulation, waste clearance, and recovery.

Water is not just a medium, it is an active nutrient required for every physiological process:

• Maintains cellular homeostasis
• Regulates temperature & electrolytes
• Facilitates nutrient absorption, circulation, and detoxification

Global Guidelines

• ICMR (2023): Men ~2.9 L/day, Women ~2.1 L/day (including food moisture).
• EFSA / WHO: 2.0–2.5 L/day for adults, higher in hot climates or illness.

Latest Research:

• Dmitrieva et al., Lancet 2023 → Long-term hydration linked to lower chronic disease incidence and slower biological aging.
• Emerging evidence connects hydration with cognitive performance and immune cell function.

For a child with Wiskott–Aldrich Syndrome:

• Hydration is critical during infections and fever. Even mild dehydration can worsen fatigue and delay recovery.
• Vitamin D, zinc, and selenium deficiencies can compound immune dysfunction, turning frequent infections into prolonged hospitalizations.
• Omega-3s and antioxidants can improve eczema, quality of life, and possibly reduce inflammatory burden.
• Protein-energy nutrition ensures growth, while hydration supports nutrient transport and waste elimination.

In essence, WAS highlights the interconnectedness of nutrients, not just food but hydration, micronutrients, and gut balance. Each component plays a role in resilience.

Wiskott–Aldrich Syndrome reminds us of a larger truth: ✨ In rare diseases, nutrition may not cure, but it shapes resilience, reduces complications, and sustains life.

Water, often ignored, is the foundation. When combined with targeted nutrients like vitamin D, zinc, selenium, and omega-3s, it strengthens the fragile immune and metabolic balance in WAS.

For clinicians and caregivers, recognizing this intersection means one more chance to improve outcomes in a condition where every supportive measure matters.

Until next week

Dietitian Hazel Pinto l Founder Pixienourish l Clinical Dietitian