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Primary immunodeficiency

Gene: CSF2

Red List (low evidence)

CSF2 (colony stimulating factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164400
EnsemblGeneIds (GRCh37): ENSG00000164400
OMIM: 138960, Gene2Phenotype
CSF2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Boaz Palterer (University of Florence)

Red List (low evidence)

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: Literature
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Behcet-like disease
  • Pathergy
OMIM
138960
Clinvar variants
Variants in CSF2
Penetrance
unknown
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
Panels with this gene

History Filter Activity

9 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: csf2 has been classified as Red List (Low Evidence).

7 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Boaz Palterer (University of Florence)

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