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Primary immunodeficiency

Gene: CD28

Red List (low evidence)

CD28 (CD28 molecule)
EnsemblGeneIds (GRCh38): ENSG00000178562
EnsemblGeneIds (GRCh37): ENSG00000178562
OMIM: 186760, Gene2Phenotype
CD28 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Rating Red as only a single family has been reported to date (PMID: 34214472). Some supportive functional data, but additional cases required prior to promoting this gene.
Created: 9 Jul 2021, 9:52 a.m. | Last Modified: 9 Jul 2021, 9:52 a.m.
Panel Version: 2.442

Boaz Palterer (University of Florence)

Red List (low evidence)

Beziat et al. describe 3 patients from a large kindred with homozygous mutations in CD28 causing loss of protein expression. The patients have severe HPV warts or tree man syndrome.
Extensive ex vivo functional data and mouse model are provided.
Sources: Literature
Created: 5 Jul 2021, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cutaneous horn; immunodeficiency; papillomavirus infection; tree man syndrome; warts

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • cutaneous horn
  • immunodeficiency
  • papillomavirus infection
  • tree man syndrome
  • warts
OMIM
186760
Clinvar variants
Variants in CD28
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cd28 has been classified as Red List (Low Evidence).

5 Jul 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: CD28 was added gene: CD28 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CD28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD28 were set to 34214472 Phenotypes for gene: CD28 were set to cutaneous horn; immunodeficiency; papillomavirus infection; tree man syndrome; warts Penetrance for gene: CD28 were set to unknown Review for gene: CD28 was set to RED