A genetic analysis revealed that she had a mutation in the IFIH1
gene that caused her body to make dysfunctional MDA5 proteins in cells in her respiratory tract.
Association study of IFIH1
rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population.
Abe et al., "Aicardi-Goutieres syndrome is caused by IFIH1
mutations," The American Journal of Human Genetics, vol.
When physicians conducted a genetic analysis, it revealed she had a mutation in the IFIH1
gene that led her body to produce dysfunctional MDA5 proteins, which are vital to the immune system.
The pathophysiology of abnormal calcification is unknown but is likely linked to gain-of-function IFIH1
"The blood panel manufacturer could add an IFIH1
allele indicator to their test, and flag that one-in-a-thousand baby that will need special attention at flu season," he wrote.
Studies have also confirmed the association between IFIH1
, CYP27B1, and CLEC16, which are important in immune system and T1DM .
Such genes include the insulin gene, cytotoxic T-lymphocyte antigen 4 gene (CTLA4) [26, 63, 64], protein tyrosine phosphatase N22 gene (PTPN22) , IL-2 receptor alpha (IL-2RA) , and interferon induced with helicase C domain 1 (IFIH1
) gene .
Among European identified SLE loci were HLA loci HLA-DRA  and ATG5 , immune signal transduction loci BANK1 , BLK , LYN , TLR, and IFN pathway related loci IFIH1
, STAT4 , TNFAIP3 , IRF7 , IRF8 , as well as NCF2 , IL10 , PHRF1 , CD44 , ICAM1JCAM4 , TYK2 , and UBE2L3 .
Association of IFIH1
and other autoimmunity risk alleles with selective IgA deficiency.
These include the insulin gene (INS)  on chromosome 11p15 (2), the polymorphic, cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene on chromosome 2q33 (3), the protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22) gene on chromosome 1p13 (4), the interleukin 2 receptor, alpha (IL2RA) and interferon induced with helicase C domain 1 (IFIH1
) genes, and other recently discovered loci from genomewide association (GWA) studies (5) (Fig.
Wu et al., "Genetic association study of TNFAIP3, IFIH1
, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population," PLoS ONE, vol.