Absence of SLAM mutations in EBV‐associated lymphoproliferative disease patients

@article{Ferrand2003AbsenceOS,
  title={Absence of SLAM mutations in EBV‐associated lymphoproliferative disease patients},
  author={V{\'e}ronique Ferrand and Cui-Lin Li and Giovanni Romeo and Luo Yin},
  journal={Journal of Medical Virology},
  year={2003},
  volume={70}
}
X‐linked lymphoproliferative disease is a rare inherited immunodeficiency in which affected males present abnormal responses to Epstein‐Barr virus (EBV) infection. The gene defective in X‐linked lymphoproliferative disease, SH2D1A (also named SAP or DSHP), has been identified and shown to code for an adapter protein that interacts with signaling lymphocytic activation molecule (SLAM) and several other members of the CD2 superfamily. SH2D1A is mutated in no more than 60% of X‐linked… 

The Association of CD46, SLAM and CD209 Cellular Receptor Gene SNPs with Variations in Measles Vaccine-Induced Immune Responses: A Replication Study and Examination of Novel Polymorphisms

TLDR
Understanding the functional and mechanistic consequences of these genetic polymorphisms on immune response variations could assist in directing new measles and potentially other viral vaccine design, and in better understanding measles immunogenetics.

Molecular and cellular pathogenesis of X‐linked lymphoproliferative disease

TLDR
In XLP patients who lack functional SAP, the SLAM family receptors may not signal properly, which likely contributes to the phenotypes of XLP, including fulminant infectious mononucleosis, lymphoma, and hypogammaglobulinemia.

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TLDR
X‐linked lymphoproliferative disease should be suspected in certain boys previously diagnosed as having CVID and patients are recommended to be investigated both by genetic analysis of SH2D1A and by expression of SAP protein.

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TLDR
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    Proceedings of the National Academy of Sciences of the United States of America
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TLDR
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TLDR
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TLDR
It was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome and unidentified factors, either environmental or genetic, contribute to the pathogenesis of XLP.

The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B.

TLDR
It is reported that SH2D1A associates with Dok1, a protein that interacts with Ras-GAP, Csk, and Nck, and can affect multiple intracellular signaling pathways that are potentially important in the normal effective host response to Epstein-Barr virus infection.

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).

TLDR
Development of dysgamma-globulinaemia and lymphoma without evidence of prior EBV infection in four of the authors' patients suggests that EBV is unrelated to these phenotypes, in contrast to fulminant or fatal infectious mononucleosis.

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TLDR
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The X-linked lymphoproliferative disease (XLP), one of six described X-linked immunodeficiencies, stems from a mutation at Xq25 which renders males impotent to mount an effective immune response to

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TLDR
Characteristics that distinguish ML in XLP from other ML include a maternal family history of XLP, early age of onset, acquired hypogammaglobulinemia, post‐EBV infection, and ileocecal involvement.