19 research outputs found
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
Get PDFA female offspring of consanguineous parents, showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, and impaired natural killer cell function. Cells from this patient had undetectable WAS protein (WASP), but normal WAS sequence and messenger RNA levels. WASP interacting protein (WIP), which stabilizes WASP, was also undetectable. A homozygous c.1301C>G stop codon mutation was found in the WIPF1 gene, which encodes WIP. Introduction of WIP into the patient’s T cells restored WASP expression. These findings indicate that WIP deficiency should be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
No full text800 years of vegetation change, fire and human settlement in the Sierra Nevada of California, USA
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Long-term outcome and lineage-specific chimerism in 194 Wiskott-Aldrich Syndrome patients treated by hematopoietic celltransplantation between 1980-2009: an international collaborative study.
No full textDown syndrome B-lymphocyte subpopulations, intrinsic defect or decreased T-lymphocyte help.
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Holocene and historical vegetation change and fire history on the north-central coast of California, USA
No full textCorrelation between Histopathological and FT-Raman Spectroscopy Analysis of the Liver of Swiss Mice Infected with Paracoccidioides brasiliensis
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