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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are numerous patients reported with both mono- and bi-allelic variants in IFIH1. Heterozygous gain-of-function variants are thought to result in Aicardi-Goutieres syndrome (autoimmune disorder), while putative LoF variants have been reported in patients with inborn errors of immunity and early-onset IBD. Many cases harbour relatively common hypomorphic variants, which slightly impair MDA5 activity and increase susceptibility to infections with incomplete penetrance. True recessive cases are relatively rare, with only 6 individuals reported with biallelic rare variants in IFIH1 (PMIDs: 29018476; 34185153). Nonetheless, MOI should remain BOTH monoallelic and biallelic, autosomal or pseudoautosomal on this panel.; to: Comment on mode of inheritance: There are numerous patients reported with both mono- and bi-allelic variants in IFIH1. Heterozygous gain-of-function variants are thought to result in Aicardi-Goutieres syndrome (autoimmune disorder), while putative LoF variants have been reported in patients with inborn errors of immunity and early-onset IBD. Many cases harbour relatively common hypomorphic variants, which slightly impair MDA5 activity and increase susceptibility to infections with incomplete penetrance. True recessive cases are relatively rare, with only 6 individuals reported with biallelic rare variants in IFIH1 (PMIDs: 29018476; 34185153). Based on available evidence, MOI should remain BOTH monoallelic and biallelic, autosomal or pseudoautosomal on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska commented on gene: IFIH1: Comment on mode of inheritance: There are numerous patients reported with both mono- and bi-allelic variants in IFIH1. Heterozygous gain-of-function variants are thought to result in Aicardi-Goutieres syndrome (autoimmune disorder), while putative LoF variants have been reported in patients with inborn errors of immunity and early-onset IBD. Many cases harbour relatively common hypomorphic variants, which slightly impair MDA5 activity and increase susceptibility to infections with incomplete penetrance. True recessive cases are relatively rare, with only 6 individuals reported with biallelic rare variants in IFIH1 (PMIDs: 29018476; 34185153). Nonetheless, MOI should remain BOTH monoallelic and biallelic, autosomal or pseudoautosomal on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska edited their review of gene: IFIH1: Changed phenotypes to: Immunodeficiency 95, OMIM:619773, immunodeficiency 95, MONDO:0030692, Aicardi-Goutieres syndrome 7, OMIM:615846, Aicardi-Goutieres syndrome 7, MONDO:0014367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska edited their review of gene: IFIH1: Changed publications to: 28606988, 28716935, 29018476, 34185153, 34726731, 38757311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 |
Ida Ertmanska changed review comment from: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands from Italy and USA. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. Functional effect of each variant was tested using a dual luciferase reporter assay was used to test for activity of the allele driven by the IFNB1 promoter. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. IFIH1 is associated with AD Aicardi-Goutieres syndrome 7, OMIM:615846, AD Singleton-Merten syndrome 1, OMIM:182250, and AR Immunodeficiency 95, OMIM:619773 (Accessed 9th Sept 2026).; to: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands from Italy and USA. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. Functional effect of each variant was tested using a dual luciferase reporter assay was used to test for activity of the allele driven by the IFNB1 promoter. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. IFIH1 is associated with AD Aicardi-Goutieres syndrome 7, OMIM:615846, AD Singleton-Merten syndrome 1, OMIM:182250, and AR Immunodeficiency 95, OMIM:619773 (Accessed 9th Sept 2026). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 |
Ida Ertmanska changed review comment from: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands from Italy and USA. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. Functional effect of each variant was tested using a dual luciferase reporter assay was used to test for activity of the allele driven by the IFNB1 promoter. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV.; to: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands from Italy and USA. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. Functional effect of each variant was tested using a dual luciferase reporter assay was used to test for activity of the allele driven by the IFNB1 promoter. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. IFIH1 is associated with AD Aicardi-Goutieres syndrome 7, OMIM:615846, AD Singleton-Merten syndrome 1, OMIM:182250, and AR Immunodeficiency 95, OMIM:619773 (Accessed 9th Sept 2026). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 |
Ida Ertmanska changed review comment from: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV.; to: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands from Italy and USA. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. Functional effect of each variant was tested using a dual luciferase reporter assay was used to test for activity of the allele driven by the IFNB1 promoter. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska edited their review of gene: IFIH1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska edited their review of gene: IFIH1: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 |
Ida Ertmanska changed review comment from: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV.; to: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34185153 Cananzi et al., 2021 Cohort of 42 Very Early Onset IBD probands. WES identified rare, likely loss-of-function (LoF), IFIH1 variants in eight patients with VEOIBD: homozygous p.Asp673Ilefs*5 in Patient 1, and het LoF variants in others (2 frameshift, 2 splice, and 3 stop-gain variants). Among these, two patients also carried a second hypomorphic missense variant each, with some partial function; two individuals had rare missense variants in trans with protein function described to be normal; two patients only harboured 1 LoF IFH1 variant; P7 had 2 IFH1 variants in cis: c.2807+1G>A and p.Thr702Ile. In summary, 3 monoallelic individuals and 5 biallelic individuals were reported. Parents of the homozygous individual were unaffected. In 2/3 monoallelic cases, the LoF variants were inherited from an unaffected parent as well - incomplete penetrance. Only P1 with a homozygous IFIH1 variant suffered from recurrent infections, with early neonatal sepsis. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 29018476 Zaki et al. 2017 Egyptian female patient with microcephaly, severe psychomotor retardation, seizures and cataracts (attributed to a homozygous PHGDH, c.1273G>A (p.Val425Met) variant causing 3-phosphoglycerate dehydrogenase deficiency). She also suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization - attributed to a homozygous IFIH1 c.2665A>T (p.Lys889*) variant - rare in gnomAD v4. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 |
Ida Ertmanska changed review comment from: PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV.; to: PMID: 38757311 Najm et al., 2024 Report of nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) identified with putative loss-of-function IFIH1 variants by WES. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. Variant c.2807+1G>A, homozygous in the most severe case, has MAF = 0.01909 in gnomAD, with 86 homozygotes noted. PMID: 34726731 Chen et al., 2021 Report of two unrelated children with enterovirus rhombencephalitis with IFIH1 variants. Seq method: trio WES. P1 - male, born to nonconsanguineous parents of sub-Saharan African origin. He was comp het for IFIH1 variants c.965delT, p.F322fsTer2 and hypomorphic c.838G>A, p.D280N. P2 - male, born to nonconsanguineous parents of Spanish origin. He was homozygous for IFIH1: c.1641+1G>C - AF in European population in gnomAD is 0.01353, with total 122 homozygotes reported. The patients have not suffered any other severe infectious disease since hospitalization for EV encephalitis. PMID: 28716935 Asgari et al., 2017 Cohort of 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Eight study participants carried putative LoF variants in IFIH1. Four study participants carried a splicing variant, rs35732034 / IFIH1 c.2807+1G>A, one in homozygous and three in heterozygous form. It was shown to cause exon 14 skipping. This variant is present in gnomAD v4.1.1. with MAF = 0.01909; total of 86 homozygotes reported. 1 individual was het for rs35744605 (IFIH1 p.Glu627Ter) - MAF = 0.006540 in gnomAD, 30 hom. Three individuals with RSV bronchiolitis were het for rs35337543 (denoted as p.Leu509_Glu547del change in the paper, but c.1641+1G>C in ClinVar). PMID: 28606988 Lamborn et al., 2017 5yo female patient with inherited MDA5 deficiency (manifesting in recurrent viral respiratory infections requiring frequent hospitalizations) and a homozygous IFIH1 variant c.1093A>G, p.Lys365Glu. At 40 days, she had she had respiratory failure from concurrent HRV/enterovirus and influenza B virus infections. The p.Lys365Glu variant is fairly common (MAF 0.004291 in gnomAD v4.1.1, 2 homozygotes reported). Seq method: WES. Functional: Nasal epithelial cells from the patient, or fibroblasts gene-edited to express mutant MDA5, showed increased replication of HRV but not influenza or RSV. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska edited their review of gene: IFIH1: Changed rating: RED; Changed publications to: 34726731, 28716935, 28606988; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 | IFIH1 | Ida Ertmanska reviewed gene: IFIH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 95, OMIM:619773, immunodeficiency 95, MONDO:0030692; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.497 | IFIH1 | Arina Puzriakova Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 (AD); Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders; Rhinovirus and other RNA viruses (AR); susceptibility to RNA viruses; Defects in Intrinsic and Innate Immunity to Aicardi-Goutieres syndrome 7, OMIM:615846 (AD); Singleton-Merten syndrome 1, OMIM:182250 (AD); Susceptibility to RNA viruses (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFIH1 | Louise Daugherty commented on gene: IFIH1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFIH1 | Louise Daugherty commented on gene: IFIH1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFIH1 | Kimberly Gilmour reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 | IFIH1 | Tracy Briggs reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 | IFIH1 | Louise Daugherty Source NHS GMS was added to IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 | IFIH1 | Louise Daugherty Source North West GLH was added to IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 | IFIH1 | Louise Daugherty Source London North GLH was added to IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty marked gene: IFIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty edited their review of gene: IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty classified IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty commented on gene: IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty commented on gene: IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Sophie Hambleton reviewed gene: IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty commented on IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty reviewed IFIH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | IFIH1 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||