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Primary immunodeficiency

Gene: IRF9

Amber List (moderate evidence)

IRF9 (interferon regulatory factor 9)
EnsemblGeneIds (GRCh38): ENSG00000213928
EnsemblGeneIds (GRCh37): ENSG00000213928
OMIM: 147574, Gene2Phenotype
IRF9 is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Two families reported.
Created: 10 Apr 2020, 10:21 a.m. | Last Modified: 10 Apr 2020, 10:21 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 65, susceptibility to viral infections 618648

Publications

Catherine Snow (Genomics England)

I don't know

Identified by external reviewer as not present in the Primary immunodeficiency (version 2.37) or the research Viral susceptibility panel (version 0.35).

PMID:30143481 - Life-threatening Influenza Pneumonitis in a Child With Inherited IRF9 Deficiency. 5 year old Algerian girl homozygous for LOF variant c.991G>A and was hospitalized for severe infection with IAV requiring mechanical ventilation and Tamiflu treatment, and who had a history of recurrent benign bronchiolitis, biliary perforation following measles-mumps-rubella (MMR) vaccination at 1 yr of age, and recurrent fevers without a causative pathogen identified.

PMID:30826365 - identifies a homozygous splicing mutation in the IRF9 gene in a family of Portugese origin. The variant, c.577+1G>T (NM_006084), which is located in the donor splice site of introns 5 and 6. The proband is was a 10-year-old boy born at term to healthy consanguineous parents (first cousins of Portuguese origin and residents of Venezuela). From the first year of life, the child displayed a marked susceptibility to viral infections with moderate-to-severe symptoms of disease that resulted in persistent neurological impairment and bronchiectasis. A six month old sibling who has the same homozygous variant has had preventative treatment with IVIG and cotrimoxazole and has not presented with infections.

PMID: 28878077 - During early viral infection, overwhelming antigen exposure can cause functional exhaustion of CD8+ T cells and lead to chronic infection this paper reports on a mouse study which demonstrates that IRF9 plays a role in preventing CD8+ T cell exhaustion.
Sources: Expert Review
Created: 1 Apr 2020, 3:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 65, susceptibility to viral infections, 618648

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Immunodeficiency 65, susceptibility to viral infections, 618648
OMIM
147574
Clinvar variants
Variants in IRF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: irf9 has been classified as Amber List (Moderate Evidence).

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: IRF9 was added gene: IRF9 was added to Primary immunodeficiency. Sources: Expert Review Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRF9 were set to 30143481; 30826365 Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections, 618648 Review for gene: IRF9 was set to AMBER