Primary immunodeficiencyGene: CD28
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
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.
Created: 5 Jul 2021, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
cutaneous horn; immunodeficiency; papillomavirus infection; tree man syndrome; warts
Gene: cd28 has been classified as Red List (Low Evidence).
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