Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Case Report: Novel variants in the MYD88 gene (c.104T>C, c.141G>C) in a patient with recurrent abscesses as a cause of type 68 immunodeficiency.
Buianova AA et al.
Frontiers in Immunology, 2025
Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.
Aluri J et al.
Cells, 2021
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
Two human MYD88 variants, S34Y and R98C, interfere with MyD88-IRAK4-myddosome assembly.
George J et al.
The Journal of Biological Chemistry, 2011
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.
He B et al.
Nature Immunology, 2010
IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.
Isnardi I et al.
Immunity, 2008
Pyogenic bacterial infections in humans with MyD88 deficiency.
von Bernuth H et al.
Science (new York, N.y.), 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
18591412 (PubMed )
Supplement: jem.20080321_5.pdf
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