Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.D19delFs
Back to variants list

IRF8

NM_002163.4:p.D19delFs

Associated Papers

A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.

Ham H et al.

The Journal of Allergy and Clinical Immunology, 2025

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Rosain J et al.

Journal of Clinical Immunology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."