Wiskott Aldrich syndrome: an immunodeficiency syndrome not rare in Western Australia

Abstract

Wiskott Aldrich syndrome, a combined cellular and humoral X-linked immunodeficiency, is generally considered to be rare. The aim of this study was to ascertain the true prevalence in the paediatric population in Western Australia, describe the clinical features, and summarise the current literature on this unusual condition. All cases of Wiskott Aldrich syndrome presenting to Princess Margaret Hospital in Perth during the period from January 1960 to January 1990 were identified by a retrospective review of case records and by interviewing hospital immunology, haematology and general clinical staff. Nine cases of Wiskott Aldrich syndrome are described, demonstrating that the prevalence of Wiskott Aldrich syndrome in Western Australia is nine times that expected from previous reports. Death occurred in a number of patients before the correct diagnosis was recognised. The clinical features in this group are quite variable. Low isohaemagglutinins, elevated IgE, blunted DTH skin multitest, and very low CD8 numbers are however consistent features. Wiskott Aldrich syndrome may be more prevalent than previously recognised, and should be considered in males with thrombocytopenia and infection.

Analysis of clinical and molecular characteristics of Wiskott–Aldrich syndrome in 24 patients from 23 unrelated Chinese families

“…The first manifestation in most cases was bleeding, with bloody stool being the most common one. The 24 patients of WAS all exhibited recurrent infections, among which diarrhea and respiratory tract infection were the most common forms; besides, suppurative otitis externa, skin infections, septicemia, and perianal abscesses were also frequently observed, consistent with previous studies (14–16). Of various forms of bleeding in the patients with WAS, bloody stool and skin petechiae accounted for an overwhelming proportion.…”

Bone marrow transplantation in a child with Wiskott‐Aldrich syndrome latently infected with acyclovir‐resistant (ACVr) herpes simplex virus type 1: Emergence of foscarnet‐resistant virus originating from the ACVr virus

“…This potentially lethal congenital immunodeficiency syndrome is characterized by primarily affected morphology and function of platelets and lymphocytes. This disorder has a worldwide distribution with an estimated incidence of 4 per million live male births [Perry et al, 1980;Somerville and Forsyth, 1993]. Bone marrow transplantation (BMT) from human leukocyte antigen (HLA)-matched donors is today considered to be an essential treatment and the number of allogeneic BMTs is increasing [Rimm and Rappeport, 1990;Sullivan et al, 1994;Filipovich et al, 2001].…”

Outcome in patients with Wiskott–Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan

“…Wiskott–Aldrich syndrome (WAS) is an X‐linked disorder of haematopoietic cells characterised by thrombocytopenia with small platelets, eczema and progressive immunodeficiency (Wiskott, 1937; Aldrich et al , 1954; Perry et al , 1980). The condition is caused by mutations in the WASP gene at Xp11.22 (Derry et al , 1994), and has a worldwide distribution with an estimated incidence of 4 per one million live male births (Somerville & Forsyth, 1993). Diagnostic measures for WAS patients have progressed markedly since identification of the responsible gene ( WASP ) and its product.…”