[MIM 301 000]

Prevalence: 1/200,000. X-linked recessive transmission of a mutation resulting in a loss of function of the WASP gene (Xp11.22-p11.23) coding for the WASP protein (polymerization of the filaments of actin in the hematopoeitic cells). Primitive immune deficiency involving the lymphocytes T and B associated with thrombocytopenia (< 50,000 platelets) (purpura, petechiae, bruising, epistaxis, hemorrhage) and eczema. Recurrent bacterial and viral infections. Risk of lymphoma and inflammatory and/or autoimmune diseases: glomerulonephritis, hemolytic anemia, arthritis and vasculitis of small skin or brain vessels. Cases of asymptomatic aneurysms of the thoracic aorta have been reported (infectious or inflammatory origin ?).

A score of 1 to 5 is used to describe the severity of the condition (table).

An isolated thrombopenia with microplateles but without eczema nor immune dificit is caused by other mutations of the WAS gene [MIM 313 900]

Treatment: bone marrow transplant or gene therapy.

Anesthetic implications:

risk of bleeding diathesis. Prevention of infections. Check if the eczema treatment includes corticosteroids. Sometimes  post bone marrow transplant status.

References : 

-        Pellier I, Dupuis-Girod S, Mosel D, Benabidallah S et al. 
Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome. 
Pediatrics 2011; 127: e498-504. 

-        Chan DXH, Thay Y, Ali A.
An unusual cause of intraoperative airway obstruction in a child with Wiskott-Aldrich syndrome.
Anaesthesia Cases 2014; 2: 98-102.

-         Hacein-Bey Abina S, Gaspar B, Blondeau J, CaccavelliL, Buckland K et al. 
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. 
JAMA 2015; 313: 1550-63. 

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: February 2021