Disorders of immune dysregulation
Gene: ELF4EnsemblGeneIds (GRCh38): ENSG00000102034
EnsemblGeneIds (GRCh37): ENSG00000102034
OMIM: 300775, Gene2Phenotype
ELF4 is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: OtherCreated: 12 Dec 2023, 10:55 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
- OMIM
- 300775
- Clinvar variants
- Variants in ELF4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elf4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)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