WIP Deficiency

In 1992, an 8-year-old girl born to consanguineous Moroccan parents was reported presenting with a disorder phenotypically identical to the X-linked Wiskott-Aldrich syndrome (WAS). Detailed analysis of the patients’ chromosome X did not reveal any functional or structural abnormalities in either of the patient’s chromosomes. Thus, the authors concluded that these findings suggest the possibility of an autosomal recessive form of the classic Wiskott Aldrich syndrome (Conley et al. 1992).