Varaico: Literature-Extracted Genetic Variants

Gene:STK4
Variant:p.W250*
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STK4

NM_006282.5:p.W250*

Associated Papers

Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.

Allaoui A et al.

Frontiers in Immunology, 2025

Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.

El Kettani A et al.

Viruses, 2024

Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.

Ying W et al.

Journal of Clinical Immunology, 2024

39110273 (PubMed )
Supplement: 10875_2024_1780_MOESM2_ESM.xlsx › S3_Immunophenotype_review

Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients.

El Kettani A et al.

Microorganisms, 2023

Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Hassanzadeh S et al.

Irish Journal of Medical Science, 2023

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.

Saeidian AH et al.

Jci Insight, 2022

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A et al.

Journal of Clinical Immunology, 2021

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

Sharafian S et al.

Journal of Clinical Immunology, 2019

Noncanonical Hippo Signalling in the Regulation of Leukocyte Function.

Kurz ARM et al.

Trends in Immunology, 2018

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C et al.

Frontiers in Immunology, 2018

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS et al.

Journal of Clinical Immunology, 2016

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

Sheikhbahaei S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016

The phenotype of human STK4 deficiency.

Abdollahpour H et al.

Blood, 2012

STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.

Gutierrez-Marin PA et al.

Pediatric Dermatology, 0

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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."