Primary immunodeficiencyGene: IRF9
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
Immunodeficiency 65, susceptibility to viral infections, 618648
Gene: irf9 has been classified as Amber List (Moderate Evidence).
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