WISKOTT-ALDRICH SYNDROME TREATMENT

Wiskott-Aldrich syndrome is a primary immunodeficiency disorder that involves combined humoral and cellular immunity deficiencies.

It results from a combined B- and T-cell defect and is characterized by recurrent infection, eczema, and thrombocytopenia

Inheritance is X-linked recessive.

Wiskott-Aldrich syndrome is caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASP), a cytoplasmic protein necessary for normal B- and T-cell signaling.

Because B- and T-cell functions are impaired, infections with pyogenic bacteria and opportunistic organisms, particularly viruses and Pneumocystis jirovecii, develop.

Infections with varicella zoster virus and herpes simplex virus are common.

SYMTOMS : -  Hemorrhagic (usually bloody diarrhea), followed by recurrent respiratory infections, eczema, and thrombocytopenia

DIAGNOSIS : -

• Immunoglobulin levels
• Platelet count and volume assessment
• White blood cell function tests (eg, neutrophil chemotaxis, T-cell function)
• Decreased T-cell count and function
• Elevated IgE and IgA levels
• Low or normal IgG levels