Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.W64*
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SH2D1A

NM_002351.5:p.W64*

Associated Papers

The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.

Rajabi E et al.

Orphanet Journal of Rare Diseases, 2025

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease.

Li B et al.

Frontiers in Immunology, 2024

Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.

Rayzan E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Preimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1.

Chen S et al.

Frontiers in Genetics, 2020

2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection.

Pende D et al.

Clinical Immunology (orlando, Fla.), 2019

Inhibitory 2B4 contributes to NK cell education and immunological derangements in XLP1 patients.

Meazza R et al.

European Journal of Immunology, 2017

Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.

Sharapova SO et al.

Journal of Pediatric Hematology/oncology, 2017

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Jin YY et al.

Human Immunology, 2016

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.

Overwater E et al.

European Journal of Pediatrics, 2014

Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1.

An YF et al.

Pediatric Blood & Cancer, 2014

X-linked lymphoproliferative syndromes: brothers or distant cousins?

Filipovich AH et al.

Blood, 2010

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

Tabata Y et al.

Blood, 2005

A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.

Sumegi J et al.

Leukemia & Lymphoma, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."