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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
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
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
Serwas NK et al.
Frontiers in Immunology, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.
Khanna-Gupta A et al.
Blood, 2007
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