Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

By B. Grimbacher, A. Hutloff, M. Schlesier, E. Glocker, K. Warnatz, R. Dräger, H. Eibel, B. Fischer, Alejandro A. Schäffer, H. Mages and 2 more. Nature Immunology, 2003

767 citations recorded by the source corpus.

Subfields: Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/dd018f1796c8c398d2a5d6dc085f80af89ddf20a

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In Genetics

1. Alejandro A. Schäffer
2. J. Bluestone

In Immunology

1. Arlene H. Sharpe
2. J. Bluestone
3. C. Mackay
4. V. Kuchroo
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6. B. Moser
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8. Shane Crotty

Citations in the corpus

• Of Mice and Not Men: Differences between Mouse and Human Immunology (2004, background): “Whereas in mice the loss of ICOS does not affect either the number of mature B cells, their maturation status or their secretion of IgM (55, 56), the loss of ICOS in humans results in a severe reduction in B cell number, maturation status and secretion of IgM (57).”
• Follicular B helper T cells in antibody responses and autoimmunity (2005, background): “Humans who are deficient in ICOS develop common variable immunodeficiency; they fail to generate memory B cells in vivo , and immunoglobulin class switching does not occu”
• T follicular helper (TFH) cells in normal and dysregulated immune responses. (2008, background): “Examples of such immunodeficiencies include X-linked lymphoproliferative disease (XLP), ICOS deficiency, and CVID, conditions in which affected individuals experience progressive hypogammaglobulinemia as well as an impaired ability to form GCs and generate long-lived memory B cells and serological i”
• Follicular Helper T Cells. (2016, background): “described was adult-onset common variable immunodeficiency caused by the loss of ICOS expression (236).”
• Costimulatory molecule ICOS plays a critical role in the development of TH-17 and follicular T-helper cells by regulating c-Maf expression and IL-21 production (2008, background): “In addition, patients who have a total defect in ICOS expression show a profound defect in B cell maturation and immunoglobulin isotype switchin”
• CD28 costimulation: from mechanism to therapy (2016, background): “Patients with ICOS deficiency were found to have increased susceptibility to infections, especially respiratory infections, and might also be predisposed to autoimmunity (Grimbacher et al., 2003; Yong et al., 2009).”
• TACI is mutant in common variable immunodeficiency and IgA deficiency (2005, background): “A single report has identified mutations in ICOS (OMIM 607594) in individuals with CVID who were probably descended from a common founde”
• Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans (2005, background): “We recently showed that CVID might be a monogenic disorder in some families with autosomal recessive CVID, as ∼2% of the cases are caused by homozygous mutations in the inducible costimulator of activated T cells ( ICOS”
• Bcl6 dependent T follicular helper cell differentiation diverges from effector cell differentiation during priming and depends on the gene Icos (2011, unknown): “In the absence of ICOS, reduced Tfh cell numbers are observed in bothmice and humans (Akiba et al., 2005; Bossaller et al., 2006; Grimbacher et al., 2003).”