Severe Combined Immunodeficiency (absent T present B cells)
Gene: CD3DEnsemblGeneIds (GRCh38): ENSG00000167286
EnsemblGeneIds (GRCh37): ENSG00000167286
OMIM: 186790, Gene2Phenotype
CD3D is in 7 panels
1 review
Danielle Ariti (University of Melbourne)
>10 individuals from 6 unrelated families reported with bi-allelic (nonsense and splice site) variants resulting in truncated protein. All patients reported with absent T cell, present B cell SCID.
Characteristic phenotype include onset in early infancy of recurrent bacterial/viral/ fungal infections, chronic diarrhoea, recurrent respiratory infections, and failure to thrive.
Immunologic profile shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. This disorder is lethal in early childhood without bone marrow transplantation.Created: 28 Sep 2021, 12:22 a.m. | Last Modified: 28 Sep 2021, 12:22 a.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 19 MIM# 615617
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Immunodeficiency 19 MIM# 615617
- Tags
- OMIM
- 186790
- Clinvar variants
- Variants in CD3D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CD3D.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cd3d has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CD3D were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CD3D was added gene: CD3D was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD3D was set to Unknown