Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

  title={Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency},
  author={Jolan E. Walter and Francesca Rucci and Laura Patrizi and Mike Recher and Stephan Regenass and Tiziana Paganini and M{\'a}rton Keszei and Itai M. Pessach and Philipp A. Lang and Pietro Luigi Poliani and Silvia Giliani and Waleed Al-Herz and Morton J Cowan and Jennifer M Puck and Jack Jan Hendrik Bleesing and Tim Niehues and Catharina Schuetz and Harry L Malech and Suk See DeRavin and Fabio F. Facchetti and Andrew R Gennery and Emma Andersson and Naynesh R. Kamani and J M Sekiguchi and Hamid M. Alenezi and Javier Chinen and Ghassan Dbaibo and Gehad E.B. Elghazali and Adriano Fontana and Srdjan Pa{\vs}i{\'c} and Cynthia Detre and Cox Terhorst and Frederick W Alt and Luigi D Notarangelo},
  booktitle={The Journal of experimental medicine},
The contribution of B cells to the pathology of Omenn syndrome and leaky severe combined immunodeficiency (SCID) has not been previously investigated. We have studied a mut/mut mouse model of leaky SCID with a homozygous Rag1 S723C mutation that impairs, but does not abrogate, V(D)J recombination activity. In spite of a severe block at the pro-B cell stage and profound B cell lymphopenia, significant serum levels of immunoglobulin (Ig) G, IgM, IgA, and IgE and a high proportion of Ig-secreting… CONTINUE READING


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Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.

Proceedings of the National Academy of Sciences of the United States of America • 2010
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