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| Combined Immunodeficiency v1.140 | IL6R | Zornitza Stark Publications for gene: IL6R were set to 31235509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.139 | IL6R | Zornitza Stark Classified gene: IL6R as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.139 | IL6R | Zornitza Stark Gene: il6r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.138 | IL6R |
Zornitza Stark edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids. PMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed rating: GREEN; Changed publications: 31235509, 39277818, 40536180 |
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| Combined Immunodeficiency v0.159 | IL6R | Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.158 | IL6R | Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.67 | IL6R | Zornitza Stark Marked gene: IL6R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.67 | IL6R | Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.67 | IL6R | Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.67 | IL6R | Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.66 | IL6R |
Zornitza Stark gene: IL6R was added gene: IL6R was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6R were set to 31235509 Phenotypes for gene: IL6R were set to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE Review for gene: IL6R was set to AMBER Added comment: Two unrelated individuals reported, some functional data. Sources: Expert list |
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