Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DOCK11
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 30 Aug 2023, 1:19 p.m. | Last Modified: 30 Aug 2023, 1:20 p.m.
Panel Version: 4.29
PMID:3695263 - Eight male patients from seven unrelated families with hemizygous DOCK11 missense variants presented with early-onset autoimmunity, including cytopenia, systemic lupus erythematosus, skin, and digestive manifestations. Of these, fourth patients had digestive manifestations such as severe inflammatory bowel disease (ileo-colitis), colon cryptitis, ileitis, oral and anal ulcers and intermittent diarrhoea.
PMID:37342957 - Four unrelated male patients with germline DOCK11 variants presented with early-onset immune dysregulation and haematopoietic defects of unknown origin. All four patients had infections and two had gastrointestinal manifestations. In addition, functional studies from both patient-derived and DOCK11-knockout mouse, and zebrafish model support the phenotypes observed in patients.
This gene has been associated with relevant phenotypes in OMIM (MIM #301109), but not yet in Gene2Phenotype.Created: 30 Aug 2023, 1:18 p.m. | Last Modified: 30 Aug 2023, 1:18 p.m.
Panel Version: 4.26
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Publications
Boussard et al. described 8 male patients, from 7 unrelated families, with hemizygous DOCK11 missense variants leading to reduced DOCK11 expression. The patients presented with early-onset autoimmunity, including cytopenia, systemic lupus erythematosus, skin, and digestive manifestations. Extensive ex vivo and in vitro functional validation.
Sources: LiteratureCreated: 22 Jun 2023, 4:14 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy
Publications
Tag Q3_23_promote_green tag was added to gene: DOCK11.
Gene: dock11 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DOCK11 were changed from early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy to Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109
Publications for gene: DOCK11 were set to 36952639
gene: DOCK11 was added gene: DOCK11 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DOCK11 were set to 36952639 Phenotypes for gene: DOCK11 were set to early-onset autoimmunity; cytopenia; systemic lupus erythematosus; dermatitis; enteropathy Penetrance for gene: DOCK11 were set to unknown Review for gene: DOCK11 was set to GREEN