Lanzi et al. (2012) reported an 11-day-old female Moroccan infant with Wiskott-Aldrich syndrome-2 (WAS2). She was born to consanguineous parents who had previously lost a daughter at age 4 months with recurrent infections. The WAS2 patient presented with ... Lanzi et al. (2012) reported an 11-day-old female Moroccan infant with Wiskott-Aldrich syndrome-2 (WAS2). She was born to consanguineous parents who had previously lost a daughter at age 4 months with recurrent infections. The WAS2 patient presented with features of Wiskott-Aldrich syndrome (WAS; 301000), including recurrent infections, eczema, and thrombocytopenia. Immunologic analysis showed low numbers of B cells and T cells, particularly CD8 (see 186910)-positive T cells. The number and percentage of natural killer (NK) cells were increased, but NK-cell functional activity was drastically reduced. IL2 (147680) corrected the partial proliferation defect in T cells from a WAS patient, but it failed to correct the complete T-cell proliferation defect in the WAS2 patient. Unlike WAS patients, who show impaired T-cell chemotaxis, the WAS2 patient showed no response to IP10 (CXCL10; 147310), in association with poor expression of IP10 receptor (CXCR3; 300574). Platelet volume was normal. The WAS2 patient had undetectable WASP (300392), like WAS patients, but normal WASP sequence and mRNA levels. WIPF1, which is required for stabilization of WASP, was also undetectable. Unrelated cord blood transplantation at age 4.5 months restored immunologic function, and the WAS2 patient was healthy 16 months after the procedure.
In the infant they reported with WAS2, Lanzi et al. (2012) identified a homozygous ser434-to-ter (S434X; 602357.0001) mutation in the WIPF1 gene. Both parents were heterozygous for the mutation. Expression of WIPF1 in the patient's T cells corrected ... In the infant they reported with WAS2, Lanzi et al. (2012) identified a homozygous ser434-to-ter (S434X; 602357.0001) mutation in the WIPF1 gene. Both parents were heterozygous for the mutation. Expression of WIPF1 in the patient's T cells corrected the defect in WASP expression.