Primary immunodeficiencyGene: ELF4
Tyler et al. ( https://www.nature.com/articles/s41590-021-00984-4 ) identified 3 males from unrelated families carrying hemizygous loss-of-function mutations presenting with early-onset mucosal autoinflammation and inflammatory bowel disease (IBD) characteristics, including fevers and ulcers that responded to interleukin-1 (IL-1), tumor necrosis factor or IL-12p40 blockade.
Created: 30 Jul 2021, 8:14 p.m. | Last Modified: 30 Jul 2021, 8:14 p.m.
Panel Version: 2.452
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Inflammatory bowel disease; IBD; mucosal inflammation; fever; ulcers; Behcet-like disease
Comment when marking as ready: Three negative expert reviews. No phenotype in OMIM. No disease associated in Gen2Phen.
Created: 11 May 2016, 10:41 a.m.
Comment on mode of pathogenicity: unknown
Created: 10 May 2016, 11:01 a.m.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for ELF4 were set to X-linked hypogammaglobulinemia with isolated growth hormone deficiency
ELF4 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25
ELF4 was created by Louise Daugherty