Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CSF2Comment on list classification: New gene added by Boaz Palterer. Relevant phenotype but currently only a single family reported (PMID:33349924). Rating Red, awaiting further cases/clinical evidence to support pathogenicity.Created: 9 Jun 2021, 1:35 p.m. | Last Modified: 9 Jun 2021, 1:35 p.m.
Panel Version: 2.427
Rösler et al. described a kindred with two patients affected by a Behcet-like disease characterized by marked pathergy and absent inflammation. They identified a heterozygous variant in the GM-CSF gene CSF2 (c.130A>C, p.N44H) resulting in disruption of an N-glycosylation site. They show that de-glycosylated GM-CSF enhances STAT-5 phosphorylation, and therefore the variant acts as a gain-of-function.
Sources: LiteratureCreated: 7 Jun 2021, 11:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Behcet-like disease; Pathergy
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: csf2 has been classified as Red List (Low Evidence).
gene: CSF2 was added gene: CSF2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CSF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF2 were set to 33349924 Phenotypes for gene: CSF2 were set to Behcet-like disease; Pathergy Penetrance for gene: CSF2 were set to unknown Mode of pathogenicity for gene: CSF2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CSF2 was set to RED