Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.P44delFs
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IFNGR1

NM_000416.3:p.P44delFs

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

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

Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency.

Hahn K et al.

Molecular Therapy. Methods & Clinical Development, 2020

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

Humblet-Baron S et al.

The Journal of Allergy and Clinical Immunology, 2019

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

van de Vosse E et al.

Human Mutation, 2017

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Barbouche MR et al.

Frontiers in Immunology, 2017

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.

Kong XF et al.

Human Molecular Genetics, 2010

Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.

Guide SV et al.

Infectious Disease Clinics of North America, 2002

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

Jouanguy E et al.

The Journal of Clinical Investigation, 2000

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Dorman SE et al.

Lancet (london, England), 0

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