Varaico: Literature-Extracted Genetic Variants

Gene:CEBPE
Variant:p.R219H
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CEBPE

NM_001805.4:p.R219H

Associated Papers

To the Editor, "CEBPE-Related Immunodeficiency Mimicking Acute Myeloid Leukemia: A Diagnostic Pitfall in Pediatric Autoinflammatory Disease".

Dwivedi P et al.

Journal of Clinical Immunology, 2025

Genotype-phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant.

Tamaru T et al.

Clinical and Experimental Immunology, 2025

The link between rheumatic disorders and inborn errors of immunity.

Sogkas G et al.

Ebiomedicine, 2023

Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?

Vergneault H et al.

Immunology, 2023

A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.

Banday AZ et al.

Journal of Clinical Immunology, 2022

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

Göös H et al.

The Journal of Allergy and Clinical Immunology, 2019

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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."