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This study in two kindreds that have complete IFN-γR2 deficiency provided the description of a gain-of-glycosylation pathogenic mutation. This led to the identification of an unexpectedly high proportion of missense mutations that might cause human genetic disease by creating new N-glycosylation sites.
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Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency
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Chapel H., Puel A., von Bernuth H., Picard C., and Casanova J.L. Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency. Clin Infect Dis 40 (2005) 1227-1231
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Human TLR-7-, -8-, and -9-mediated induction of IFN-α/β and -λ Is IRAK-4 dependent and redundant for protective immunity to viruses
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Delayed separation of umbilical cord in two sibbling with interleukin-1 receptor associated kinase 4 deficiency: rapid screening by flow cytometer
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SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease
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Sharifi R., Sinclair J.C., Gilmour K.C., Arkwright P.D., Kinnon C., Thrasher A.J., and Gaspar H.B. SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood 103 (2004) 3821-3827
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34
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19344372415
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+ T cells against EBV-infected cells
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Together with [33], this study demonstrates that lack of SAP affects specific signalling pathways, resulting in severe disruption of cytotoxic T lymphocyte function in cells from XLP patients. In addition, the authors demonstrate that the SAP/2B4 pathway plays a key role in cytotoxic T lymphocyte lytic activity against EBV-positive targets by promoting the polarization of the lytic machinery.
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+ T cells against EBV-infected cells. Blood 105 (2005) 4383-4389. Together with [33], this study demonstrates that lack of SAP affects specific signalling pathways, resulting in severe disruption of cytotoxic T lymphocyte function in cells from XLP patients. In addition, the authors demonstrate that the SAP/2B4 pathway plays a key role in cytotoxic T lymphocyte lytic activity against EBV-positive targets by promoting the polarization of the lytic machinery.
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35
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16844385039
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+ T cells
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+ T cells. This insufficient IL-10 production might also contribute to the hypogammaglobulinaemia observed in XLP.
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+ T cells. This insufficient IL-10 production might also contribute to the hypogammaglobulinaemia observed in XLP.
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36
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32444437410
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Selective generation of functional somatically mutated IgMCD27, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease
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This is an interesting study that describes the immunological B cell phenotype and histological organisation of the germinal centres of four XLP patients that have SAP mutations. Individuals that have XLP display defects in B cell differentiation in vivo and do not generate a normal number of isotype-switched CD27 memory B cells. These findings reveal a differential requirement for the generation of IgM and Ig isotype-switched memory B cells.
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Ma C.S., Pittaluga S., Avery D.T., Hare N.J., Maric I., Klion A.D., Nichols K.E., and Tangye S.G. Selective generation of functional somatically mutated IgMCD27, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease. J Clin Invest 116 (2006) 322-333. This is an interesting study that describes the immunological B cell phenotype and histological organisation of the germinal centres of four XLP patients that have SAP mutations. Individuals that have XLP display defects in B cell differentiation in vivo and do not generate a normal number of isotype-switched CD27 memory B cells. These findings reveal a differential requirement for the generation of IgM and Ig isotype-switched memory B cells.
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Regulation of NKT cell development by SAP, the protein defective in XLP
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•], this study demonstrates that the lack of SAP affects the NKT cell development in both XLP patients and mice. This reveals a potential role of NKT cells in the immune response to EBV.
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•], this study demonstrates that the lack of SAP affects the NKT cell development in both XLP patients and mice. This reveals a potential role of NKT cells in the immune response to EBV.
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