Varaico: Literature-Extracted Genetic Variants

Gene:MYD88
Variant:p.L93P
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MYD88

NM_002468.5:p.L93P

Associated Papers

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

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M et al.

Genes and Immunity, 2015

Genetic variation in Toll-like receptors and disease susceptibility.

Netea MG et al.

Nature Immunology, 2012

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

The role of Toll-like receptor signaling in human immunodeficiencies.

Suhir H et al.

Clinical Reviews in Allergy & 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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