Varaico: Literature-Extracted Genetic Variants

Gene:MYD88
Variant:p.E52del1
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MYD88

NM_002468.5:p.E52del1

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

Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect?

Romano R et al.

Life (basel, Switzerland), 2024

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.

García-García A et al.

The Journal of Experimental Medicine, 2023

A Novel Kindred with MyD88 Deficiency.

Bucciol G et al.

Journal of Clinical Immunology, 2022

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function.

Craig-Mueller N et al.

Frontiers in Immunology, 2020

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

Giardino G et al.

The Journal of Allergy and Clinical Immunology, 2016

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

Pyogenic bacterial infections in humans with MyD88 deficiency.

von Bernuth H et al.

Science (new York, N.y.), 2008

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