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| Disorders of immune dysregulation v0.185 | ELF4 | Zornitza Stark Marked gene: ELF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.185 | ELF4 | Zornitza Stark Gene: elf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.185 | ELF4 | Zornitza Stark Classified gene: ELF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.185 | ELF4 | Zornitza Stark Gene: elf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.184 | ELF4 |
Sangavi Sivagnanasundram gene: ELF4 was added gene: ELF4 was added to Disorders of immune dysregulation. Sources: Other Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ELF4 were set to 34326534, 35266071; 35748970 Phenotypes for gene: ELF4 were set to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Review for gene: ELF4 was set to GREEN Added comment: Reviewed according to PMID: 35748970 AIFBL2 is characterised by the onset of inflammatory symptoms in the first decade of life in males. Typically present with oral mucosal ulceration and skin inflammation however can present with decreased NK cells and low memory B cells. Individuals typical have normal levels of serum IgM, G, A but reduced responses to live viral vaccines Hemizygous mutations reported in at least 3 unrelated affected males with an autoinflammatory condition Sources: Other |
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