Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.W99R
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IFNGR1

NM_000416.3:p.W99R

Associated Papers

Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.

Refaat M et al.

Pathogens & Immunity, 2025

Rapid Diagnosis of Hemophagocytic Lymphohistiocytosis Triggered by Disseminated BCG Infection in Infants With Severe Combined Immunodeficiency: Case Report.

Zou TT et al.

Open Forum Infectious Diseases, 2023

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.

Errami A et al.

Journal of Clinical Immunology, 2023

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Bacillus Calmette-Guérin (BCG)-associated hemophagocytic lymphohistiocytosis in the setting of IFN-γR1 deficiency: A diagnostic dilemma.

Razaghian A et al.

Ejhaem, 2020

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Ying W et al.

Journal of Clinical Immunology, 2019

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

Humblet-Baron S et al.

The Journal of Allergy and Clinical Immunology, 2019

Influence of interferon-gamma Receptor 1 gene polymorphisms on the susceptibility to pulmonary tuberculosis among sudanese population.

Ali AH et al.

International Journal of Mycobacteriology, 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."